Academic literature on the topic 'Tuberous sclerosis 1 protein'
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Journal articles on the topic "Tuberous sclerosis 1 protein"
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Макарова, Т. П., Н. В. Самойлова, Ю. С. Мельникова, Р. Р. Кидрачева та А. У. Нигаманова. "Ангиомиолипомы почек у пациента с туберозным склерозом: клинический случай". Педиатрия. Восточная Европа 12, № 3 (2023): 488–95. http://dx.doi.org/10.34883/pi.2024.12.3.011.
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Туберозный склероз (ТС) – это генетически детерминированное заболевание, относящееся к группе факоматозов, проявляющееся развитием доброкачественных опухолей (гамартом) в различных органах. Заболевание возникает вследствие генетических мутаций в генах-онкосупрессорах – Tuberous sclerosis 1 (TSC1) и Tuberous sclerosis 2 (TSC2). Ключевую роль в патогенезе играет белок mTOR (mammalian Target of Rapamycin Complex 1), активирующий пролиферацию клеток и тормозящий процессы аутофагии. Таким образом, при наличии мутации в TSC1 и/или в TSC2 не происходит ингибирования белка mTOR, тем самым запускается усиление деления клеток, что обусловливает системное развитие опухолей. У пациентов в большинстве случаев наблюдается развитие рабдомиом сердца, ангиофибром лица, рост ангиомиолипом почек, которые в большинстве случаев развиваются бессимптомно и клинически проявляются только при осложнениях вследствие достижения значительных размеров. В статье представлено клиническое наблюдение пациента 15 лет с туберозным склерозом с множественными ангиомиолипомами почек, которые длительное время протекали бессимптомно. Tuberous sclerosis (TS) is a genetically determined disease belonging to the group of phakomatoses, manifested by the development of benign tumors (hamartomas) in various organs. The disease occurs due to genetic mutations in the tumor suppressor genes – Tuberous sclerosis 1 (TSC1) and Tuberous sclerosis 2 (TSC2). A key role in pathogenesis is played by the mTOR (mammalian Target of Rapamycin Complex 1) protein, which activates cell proliferation and inhibits autophagy processes. Thus, in the presence of a mutation in TSC1 and/or TSC2, the mTOR protein is not inhibited, thereby triggering increased cell division, which causes the systemic development of tumors. In most cases, patients experience the development of cardiac rhabdomyomas, facial angiofibromas, and the growth of renal angiomyolipomas, which, in most cases, develop asymptomatically and are clinically manifested only with complications due to reaching significant sizes. The article presents a clinical case of a 15-year-old patient with tuberous sclerosis with multiple angiomyolipomas of the kidneys, which were asymptomatic for a long time.
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K.C., Sarjan, Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, and Pradeep Maharjan. "Tuberous Sclerosis Complex in a 17-month-old: A Case Report." Journal of Nepal Medical Association 61, no. 262 (2023): 562–65. http://dx.doi.org/10.31729/jnma.8172.
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Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with loss of consciousness and later developing into generalised jerky movements. On magnetic resonance imaging, a diagnosis of tuberous sclerosis was made. The patient underwent symptomatic management with anti-epileptic. As seizures in these cases are subtle, they remain undiagnosed for a long time leading to delays in management and developing refractory seizures.
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Halley, D. J. J. "Tuberous Sclerosis: Between Genetic and Physical Analysis." Acta geneticae medicae et gemellologiae: twin research 45, no. 1-2 (1996): 63–75. http://dx.doi.org/10.1017/s0001566000001112.
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AbstractTuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder with extensive clinical variability. Present estimates of the prevalence of TSC suggest that it may exceed 1:6,000. New mutations are frequent, as about 2/3 of all cases are apparently sporadic. Locus heterogeneity has been established, with one gene on chromosome 9q34 (TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are propably subtle alterations. In some cases, somatic and germline mosaicism might be explanations for intrafamilial phenotypic variation and apparent non penetrance. A role of the predicted protein product tuberin in growth suppression would be in agreement with allelic losses observed in tumors of TSC patients. Studies on tuberin using antibodies raised against various parts of the protein can be expected to provide insight into its normal and impaired function.
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Sampson, Julian R. "Therapeutic targeting of mTOR in tuberous sclerosis." Biochemical Society Transactions 37, no. 1 (2009): 259–64. http://dx.doi.org/10.1042/bst0370259.
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Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis). Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1–TSC2 complex for Rheb, leading to inappropriate activity of signalling downstream of mTORC1 (mTOR complex 1). mTOR inhibitors are already used in a variety of clinical settings including as immunosuppressants, anticancer agents and antiproliferative agents in drug-eluting coronary artery stents. They also represent candidate therapies directed to the underlying molecular pathology in tuberous sclerosis and LAM. Phase I/II clinical trials of the mTORC1 inhibitor rapamycin have demonstrated reduction in size of tuberous-sclerosis- and LAM-associated renal tumours (angiomyolipomas) and some evidence for reversible improvement in lung function in patients with LAM. A case series of tuberous-sclerosis-associated brain tumours were also reported to shrink during rapamycin therapy. An important, although variable, feature of the tuberous sclerosis phenotype is learning difficulty. Recent studies in mouse models carrying heterozygous Tsc2 mutations demonstrated improvement in memory and learning deficits following treatment with rapamycin. These promising pre-clinical and early human trials are being followed by larger-scale randomized control trials of mTOR inhibitors for treatment of renal, lung and brain manifestations of TSC1- and TSC2-associated disease.
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Bilanges, Benoit, Rhoda Argonza-Barrett, Marina Kolesnichenko, et al. "Tuberous Sclerosis Complex Proteins 1 and 2 Control Serum-Dependent Translation in a TOP-Dependent and -Independent Manner." Molecular and Cellular Biology 27, no. 16 (2007): 5746–64. http://dx.doi.org/10.1128/mcb.02136-06.
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ABSTRACT The tuberous sclerosis complex (TSC) proteins TSC1 and TSC2 regulate protein translation by inhibiting the serine/threonine kinase mTORC1 (for mammalian target of rapamycin complex 1). However, how TSC1 and TSC2 control overall protein synthesis and the translation of specific mRNAs in response to different mitogenic and nutritional stimuli is largely unknown. We show here that serum withdrawal inhibits mTORC1 signaling, causes disassembly of translation initiation complexes, and causes mRNA redistribution from polysomes to subpolysomes in wild-type mouse embryo fibroblasts (MEFs). In contrast, these responses are defective in Tsc1 −/− or Tsc2 −/− MEFs. Microarray analysis of polysome- and subpolysome-associated mRNAs uncovered specific mRNAs that are translationally regulated by serum, 90% of which are TSC1 and TSC2 dependent. Surprisingly, the mTORC1 inhibitor, rapamycin, abolished mTORC1 activity but only affected ∼40% of the serum-regulated mRNAs. Serum-dependent signaling through mTORC1 and polysome redistribution of global and individual mRNAs were restored upon re-expression of TSC1 and TSC2. Serum-responsive mRNAs that are sensitive to inhibition by rapamycin are highly enriched for terminal oligopyrimidine and for very short 5′ and 3′ untranslated regions. These data demonstrate that the TSC1/TSC2 complex regulates protein translation through mainly mTORC1-dependent mechanisms and implicates a discrete profile of deregulated mRNA translation in tuberous sclerosis pathology.
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Wataya-Kanada, M., Y. Kanada, and K. Yoshikawa. "186 Identification and analysis of 40 kDa protein lost in tuberous sclerosis." Journal of Dermatological Science 15, no. 2 (1997): 133. http://dx.doi.org/10.1016/s0923-1811(97)81884-1.
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Nellist, M., M. A. Goedbloed, and D. J. J. Halley. "Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins." Biochemical Society Transactions 31, no. 3 (2003): 587–91. http://dx.doi.org/10.1042/bst0310587.
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Tuberous sclerosis complex (TSC) is a genetic disorder characterized by seizures, mental disability, renal dysfunction and dermatological abnormalities. The disease is caused by inactivation of either hamartin or tuberin, the products of the TSC1 and TSC2 tumour-suppressor genes. Hamartin and tuberin form a complex and antagonise phosphoinositide 3-kinase/protein kinase B/target of rapamycin signal transduction by inhibiting p70 S6 kinase, an activator of translation, and activating 4E-binding protein 1, an inhibitor of translation initiation. Phosphorylation-dependent binding between tuberin and members of the 14-3-3 protein family indicates how the tuberin–hamartin complex may interact with upstream and downstream effectors, and suggests how phosphorylation-dependent regulation of the complex may be controlled.
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Penev, Julian, Ilko Bakardzhiev, and Margarita Gospodinova. "Successful CO2 Laser Treatment of Facial Angiofibromas in a Female Patient with Tuberous Sclerosis: Case Report." Journal of Clinical Research in Dermatology 6, no. 1 (2019): 1–3. http://dx.doi.org/10.15226/2378-1726/6/1/00183.
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Tuberous sclerosis (Morbus Bourneville-Pringle) is a rare, multisystemic,autosomal dominant disease, associated with a mutation of either of two genes TSC1 and TSC2, responsible for synthesis of proteins hamartin and tuberin - tumor growth suppressing factors, involved in cell proliferation and differentiation processes. Perhaps the most common findings of TS are angiophibromas - cutaneous manifestations of the disease, serving as clinical pointers to the diagnosis. Different methods are being used to treat facial angiofibromas with little or no success. Treatment with CO2 laser ablation can provide fruitful results in removing facial angiofibromas. Presented is a case of a 40 year-old female patient, diagnosed with tuberous sclerosis with multiple facial angiofibromas, subjected to CO2 laser ablation.
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Li, Shaowei, Fumiko Takeuchi, Ji-an Wang, et al. "MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development." Journal of Experimental Medicine 202, no. 5 (2005): 617–24. http://dx.doi.org/10.1084/jem.20042469.
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Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes. To identify soluble factors with potential roles in TSC tumorigenesis, we screened TSC skin tumor–derived cells for altered gene and protein expression. Fibroblast-like cells from 10 angiofibromas and five periungual fibromas produced higher levels of monocyte chemoattractant protein-1 (MCP-1) mRNA and protein than did fibroblasts from the same patient's normal skin. Conditioned medium from angiofibroma cells stimulated chemotaxis of a human monocytic cell line to a greater extent than conditioned medium from TSC fibroblasts, an effect blocked by neutralizing MCP-1–specific antibody. Overexpression of MCP-1 seems to be caused by loss of tuberin function because Eker rat embryonic fibroblasts null for Tsc2 (EEF Tsc2−/−) produced 28 times as much MCP-1 protein as did EEF Tsc2+/+ cells; transient expression of WT but not mutant human TSC2 by EEF Tsc2−/− cells inhibited MCP-1 production; and pharmacological inhibition of the Rheb-mTOR pathway, which is hyperactivated after loss of TSC2, decreased MCP-1 production by EEF Tsc2−/− cells. Together these findings suggest that MCP-1 is an important paracrine factor for TSC tumorigenesis and may be a new therapeutic target.
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Tomasoni, Romana, and Anna Mondino. "The tuberous sclerosis complex: balancing proliferation and survival." Biochemical Society Transactions 39, no. 2 (2011): 466–71. http://dx.doi.org/10.1042/bst0390466.
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Mutations in genes encoding either hamartin [TSC1 (tuberous sclerosis complex 1)] or tuberin (TSC2) result in a multisystem disorder characterized by the development of benign tumours and hamartomas in several organs. The TSC1 and TSC2 proteins form a complex that lies at the crossroad of many signalling pathways integrating the energy status of the cell with signals induced by nutrients and growth factors. The TSC1/2 complex is a critical negative regulator of mTORC1 [mTOR (mammalian target of rapamycin) complex 1], and by that controls anabolic processes to promote cell growth, proliferation and survival. In the present paper, we review recent evidence highlighting the notion that the TSC1/2 complex simultaneously controls mTOR-dependent and mTOR-independent signals critical for the balancing of cell proliferation and cell death.
Dissertations / Theses on the topic "Tuberous sclerosis 1 protein"
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Hsieh, Ting-Chiu. "Tuberous sclerosis complex 1 (Tsc1) regulates dE2F1 protein expression during development and cooperates with Rbf1 to control proliferation and survival in «Drosophila melanogaster»." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=95246.
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Retinoblastoma tumour suppressor Rb is a cell cycle regulator that is active during early G1 preventing the transition from G1 to S-phase. This is achieved by Rb inhibiting E2F transcription factors from activating expression of genes required for G1 to S-phase progression and DNA synthesis. In our initial genetic test searching for genes that interact with mutations of rbf1, the homologue of rb in Drosophila melanogaster, one of the genes identified was tsc1, which is also a tumour suppressor gene that regulates translation and cell growth. We found that in Drosophila eye imaginal disc cells, tsc1 and rbf1 mutations have a synergistic effect on increasing the level of cell death and promoting ectopic S-phase entry. In addition, I found that dE2F1 protein level increased in tsc1 mutant eye disc cells, which implies that Tsc1 is a negative regulator of dE2F1 expression. The goal of my thesis study was to characterize the synergistic relation between Rbf1 and Tsc1 as well as the regulation of dE2F1 expression by Tsc1. In cells triple-mutant for rbf1, tsc1, and de2f1, I found that the observed elevation in cell death in rbf1 and tsc1double-mutant cells was suppressed, which suggests that the cooperation between Rbf1 and Tsc1 is dE2F1-dependent. Moreover, by using a reporter construct for dE2F1 activity, PCNA-GFP, and performing in situ hybridization with anti-sense RNA probes of dE2F1 target genes, rnrS, Cyclin E, and PCNA, I showed that activities of de2f1 downstream target genes were activated by tsc1 mutations, suggesting that Tsc1 also regulates dE2F1 target gene expression. Through clonal analysis of loss-of-function mutant alleles of the canonical Tsc pathway genes, I found that Tsc1 regulates dE2F1 via the Tsc pathway, specifically tsc/rheb/Tor/s6k. Finally, my RTq-PCR result showed that the regulation of dE2F1 protein expression by Tsc1 is at post-transcriptional level. To address whether the regulation is at the level of translation, I cloned the 5' untran<br>Le suppresseur de tumeur du Rétinoblastome, Rb, est un régulateur du cycle cellulaire qui est actif dans la phase précoce G1, prévenant le passage en phase S. Pour ce faire Rb inhibe le facteur de transcription E2F, l'empêchant d'activer l'expression de gènes requis pour le passage de la phase G1 à la phase S et pour la synthèse d'ADN. Dans nos tests génétiques initiaux, cherchant des gènes interagissant avec la mutation rbf1, l'homologue de rb chez Drosophila Melanogaster, un des gènes identifié fut tsc1, qui est également un gène suppresseur de tumeur qui régule la traduction et la croissance cellulaire. Nous avons découvert que dans les cellules des disques imaginaux des yeux, les mutations tsc1 et rbf1 ont un effet synergique sur l'augmentation du taux de mort cellulaire et promeuvent l'entrée en phase ectopique S. Il fut également découvert que le taux de la protéine dE2f1 augmente dans les cellules mutantes du disque des yeux, ce qui implique que Tsc1 est un régulateur négatif de l'expression de dE2F1. Le but de ma thèse était de caractériser la régulation de l'expression de dE2F1 par Tsc1 et la relation de synergie entre Rbf1 et Tsc1. Dans les cellules triples mutantes pour rbf1, tsc1, et de2f1, j'ai trouvé que l'augmentation du taux de mort cellulaire observé disparaissait dans les cellules doubles mutantes rbf1 et tsc1, ce qui suggère que la coopération entre Rbf1 et Tsc1 est dE2F1-dependante. Egalement, en utilisant un gène rapporteur de l'activité de de2f1, PCNA-GFP, et en réalisant des hybridations in situ avec des sondes ARN anti sens, rnrS, Cyclin E, and PCNA, j'ai montré que l'activité de la région en aval des gènes cibles de de2f1 était activé par la mutation tsc1, suggérant que Tsc1 régule également l'expression des gènes cible de dE2F1. Par l'analyse de clones possédant des allèles mutants perte de fonction pour les gènes de la cascade canonique Tsc, j'ai trouvé que Tsc1 régule dE2F1 par le biais$
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Slegtenhorst, Marjon Annette van. "Tuberous sclerosis complex 1 gene identification and characterisation /." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1998. http://hdl.handle.net/1765/13665.
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Zetterström, Per. "Misfolded superoxide dismutase-1 in amyotrophic lateral sclerosis." Doctoral thesis, Umeå universitet, Klinisk kemi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-43898.
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Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. ALS is always fatal, usually through respiratory failure when the disease reaches muscles needed for breathing. Most cases are sporadic, but approximately 5–10% are familial. The first gene to be linked to familial ALS encodes the antioxidant enzyme superoxide dismutase-1 (SOD1). Today, more than 160 different mutations in SOD1 have been found in ALS patients. The mutant SOD1 proteins cause ALS by gain of a toxic property that should be common to all. Aggregates of SOD1 in motor neurons are hallmarks of ALS patients and transgenic models carrying mutant SOD1s, suggesting that misfolding, oligomerization, and aggregation of the protein may be involved in the pathogenesis. SOD1 is normally a very stable enzyme, but the structure has several components that make SOD1 sensitive to misfolding. The aim of the work in this thesis was to study misfolded SOD1 in vivo. Small amounts of soluble misfolded SOD1 were identified as a common denominator in transgenic ALS models expressing widely different forms of mutant SOD1, as well as wild-type SOD1. The highest levels of misfolded SOD1 were found in the vulnerable spinal cord. The amounts of misfolded SOD1 were similar in all the different models and showed a broad correlation with the lifespan of the different mouse strains. The misfolded SOD1 lacked the C57-C146 intrasubunit disulfide bond and the stabilizing zinc and copper ions, and was prinsipally monomeric. Forms with higher apparent molecular weights were also found, some of which might be oligomers. Misfolding-prone monomeric SOD1 appeared to be the principal source of misfolded SOD1 in the CNS. Misfolded SOD1 in the spinal cord was found to interact mainly with chaperones, with Hsc70 being the most important. Only a minor proportion of the Hsc70 was sequestered by SOD1, however, suggesting that chaperone depletion is not involved in ALS. SOD1 is normally found in the cytoplasm but can be secreted. Extracellular mutant SOD1 has been found to be toxic to motor neurons and glial cells. Misfolded SOD1 in the extracellular space could be involved in the spread of the disease between different areas of the CNS and activate glial cells known to be important in ALS. The best way to study the interstitium of the CNS is through the cerebrospinal fluid (CSF), 30% of which is derived from the interstitial fluid. Antibodies specific for misfolded SOD1 were used to probe CSF from ALS patients and controls for misfolded SOD1. We did find misfolded SOD1 in CSF, but at very low levels, and there was no difference between ALS patients and controls. This argues against there being a direct toxic effect of extracellular SOD1 in ALS pathogenesis. In conclusion, soluble misfolded SOD1 is a common denominator for transgenic ALS model mice expressing widely different mutant SOD1 proteins. The misfolded SOD1 is mainly monomeric, but also bound to chaperones, and possibly exists in oligomeric forms also. Misfolded SOD1 in the interstitium might promote spread of aggregation and activate glial cells, but it is too scarce to directly cause cytotoxicity.
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Zügge, Karin Louise. "Molecular genetic investigation of the variability of the GTPase activating protein- (GAP-) related domain of the tuberous sclerosis-2 (TSC2) gene in TSC patients and healthy subjects." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=972115366.
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Forsberg, Karin. "Misfolded superoxide dismutase-1 in sporadic and familial Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-47550.
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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. ALS is not a pure motor neuronal syndrome; it extends beyond the motor system and affects extramotor areas of the brain as well. The majority of the patients suffer from a sporadic ALS disease (SALS) while in at least ten percent the disease appears in a familial form (FALS). Mutations in the gene encoding the antioxidant enzyme superoxide dismutase-1 (SOD1) are the most common cause of FALS. More than 165 SOD1 mutations have been described, and these confer the enzyme a cytotoxic gain of function. Evidence suggests that the toxicity results from structural instability which makes the mutated enzyme prone to misfold and form aggregates in the spinal cord and brain motor neurons. Recent studies indicate that the wild-type human SOD1 protein (wt-hSOD1) has the propensity to develop neurotoxic features. The aim of the present study was to investigate if wt-hSOD1 is involved in the pathogenesis of SALS and FALS patients lacking SOD1 mutations and to evaluate the neurotoxic effect of misfolded wt-hSOD1 protein in vivo by generating a transgenic wt-hSOD1 mice model. We produced specific SOD1-peptide-generated antibodies that could discriminate between the misfolded and native form of the enzyme and optimized a staining protocol for detection of misfolded wt-hSOD1 by immunohistochemistry and confocal microscopy of brain and spinal cord tissue. We discovered that aggregates of misfolded wt-hSOD1 were constitutively present in the cytoplasm of motor neurons in all investigated SALS patients and in FALS patients lacking SOD1 gene mutations. Interestingly, the misfolded wt-hSOD1 aggregates were also found in some motor neuron nuclei and in the nuclei of the surrounding glial cells, mainly astrocytes but also microglia and oligodendrocytes, indicating that misfolded wt-hSOD1 protein aggregates may exert intranuclear toxicity. We compared our findings to FALS with SOD1 mutations by investigating brain and spinal cord tissue from patients homozygous for the D90A SOD1 mutation, a common SOD1 mutation that encodes a stable SOD1 protein with a wild-type-like enzyme activity. We observed a similar morphology with a profound loss of motor neurons and aggregates of misfolded SOD1 in the remaining motor neuron. Interestingly, we found gliosis and microvacuolar degeneration in the superficial lamina of the frontal and temporal lobe, indicating a possible frontotemporal lobar dementia in addition to the ALS disorder. Our morphological and biochemical findings were tested in vivo by generating homozygous transgenic mice that over expressed wt-hSOD1. These mice developed a fatal ALS-like disease, mimicking the one seen in mice expressing mutated hSOD1. The wt-hSOD1 mice showed a slower weight gain compared to non-transgenic mice and developed a progressive ALS-like hind-leg paresis. Aggregates of misfolded wt-hSOD1 were found in the brain and spinal cord neurons similar to those in humans accompanied by a loss of 41 % of motor neurons compared to non-transgenic litter mates. In conclusion, we found misfolded wt-hSOD1 aggregates in the cytoplasm and nuclei of motor neurons and glial cells in all patients suffering from ALS syndrome. Notable is the fact that misfolded wt-hSOD1 aggregates were also detected in FALS patients lacking SOD1 mutations indicating a role for SOD1 even when other genetic mutations are present. The neurotoxicity of misfolded wt-hSOD1 protein was confirmed in vivo by wt-hSOD1 transgenic mice that developed a fatal ALS-like disease. Taken together, our results support the notion that misfolded wt-hSOD1 could be generally involved and play a decisive role in the pathogenesis of all forms of ALS.
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Ho, Yuen Yee. "Chitinase 3-like 1 protein production characterizes dermal cells in patients with systemic sclerosis." Thesis, McGill University, 2013. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=114208.
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Systemic sclerosis (scleroderma, SSc) is a complex autoimmune disease with a highly variable array of clinical features and often fatal outcome. The disease is characterized by microvascular dysfunction, immune abnormalities, chronic inflammation and tissue fibrosis in the skin and internal organs. Chi3L1 is part of the innate stress response of connective tissue cells and elevated serum levels have been observed in SSc. It has long been established that the degree of skin involvement is useful to classify SSc patients, as it often associates with distinct patterns of organ involvement, disease severity and survival. Dermal cells are one of the main effector cells involved in the development of fibrotic lesions in the skin, and their biological activity is regulated by a variety of cytokines and growth factors. In this study the capacity of dermal cells from SSc patients and from healthy individuals to synthesize Chi3L1 and the regulation of this process by growth factors and cytokines were investigated. The cell types that express Chi3L1 in the dermis of SSc patients were also characterized.This study involved 61 dermal cell preparations from skin biopsies taken from the forearm and abdomen of 41 SSc patients and 15 dermal cell preparations from 10 control individuals. The cells were maintained in monolayer cell culture, and stimulated with cytokines and growth factors: IL-1, IL-4, IL-10, IL-13, IL-6, IL-17, OSM, ET-1, TNF-α, TGF-β or PDGF in the absence of serum. Chi3L1 in culture media was analyzed by SDS-PAGE and immunoblotting. Results demonstrated that some SSc dermal cells endogenously express Chi3L1; Chi3L1 expression is variably upregulated in SSc in response to IL-1 and OSM, with OSM having a more prominent effect; Chi3L1 is never found in healthy control skin cell preparations; dermal cells from forearm skin are more likely to produce Chi3L1 than those derived from abdominal skin; and patients with early disease are more likely to produce Chi3L1 consistently in dermal cells derived from both arm and abdomen irrespective of other disease characteristics. Further characterization of Chi3L1-expressing SSc dermal cells showed that only about 5-10% of the total cell population produced Chi3L1 spontaneously. While OSM, a pro-inflammatory cytokine nearly doubled Chi3L1-expressing cells; TGF-β, a pro-fibrotic growth factor downregulated Chi3L1 expression by the cells. Cells that express Chi3L1 also did not stain positively for α-smooth muscle actin, which identifies mature myofibroblasts, suggesting that Chi3L1 is not directly associated with fibrosis. The cells that endogenously produced Chi3L1 also expressed nestin, CD73, STRO-1, TIE2, LSP-1 and NG2 (all of which are progenitor/stem cell markers). These cells were not detected in normal dermal cell preparations. Some SSc dermal cell preparations also contain a population of fibroblast-related cells capable of secreting Chi3L1 when stimulated by OSM. Thus endogenous and OSM induced expression of Chi3L1 identified cell-population(s) in the dermis of SSc patients which may be associated with the transient stage in the transition of progenitor/stem cells to fibroblast-related cells to mature fibroblasts. Therefore, Chi3L1 expression may be a marker of "active" cells in the early establishment of SSc to expand the pool of fibroblasts in the dermis of SSc patients.<br>La sclérodermie systémique (sclérodermie ou SSc) est une maladie auto-immune complexe qui présente un ensemble très variable de caractéristiques cliniques et est souvent fatale. La maladie est caractérisée par un disfonctionnement micro vasculaire, une inflammation chronique ainsi qu'une fibrose dans le tissu cutané et les organes internes.Chi3L2 fait partie de la réponse inhérente au stress des cellules des tissus conjonctifs et des niveaux sériques ont été observés dans des cas de SSc. Il a été établi, il y a longtemps, que le niveau d'atteinte cutanée aide à la classification des patients atteints de SSc étant donné qu'il est associé aux différents schémas d'atteinte des organes, sévérité de la maladie et le taux de survie. Les cellules dermiques sont impliquées dans le développement des lésions fibriques de la peau et leur activité biologique est régularisée par nombre de cytokines et de facteurs de croissance. La capacité des cellules dermiques de patients atteints de SSc et de sujets normaux à synthétiser du Chi3L1 et le régulation de ce processus par des facteurs de croissance et des cytokines a été au centre de cette étude. Les cellules exprimant le Chi3L1 dans le derme des personnes atteintes de SSc a également été caractérisé.Cette étude comporte 61 préparations de cellules dermiques prises de biopsie de peau de l'avant-bras et d'abdomen provenant de 41 patients atteints de SSc et de 15 préparations cde cellules provenant de 10 sujets témoins. Les cellules ont été maintenues en culture cellulaire monocouche et stimulées par des cytokines et facteurs de croissance suivants : IL-1, IL-4, IL-10, IL-13, IL-6, IL-17, OSM, ET-1, TNF-, TGF- ou PDGF en absence de sérum. La présence de Chi3L1 en milieu de culture a été analysée par SDS-PAGE et immunoblot. Les résultats démontrent que certaines cellules SSc dermiques expriment du Chi3L1 de façon endogène; le Chi3L1 est exprimé positivement de façon variable en réponse au IL1 et l'OSM, ce dernier ayant un effet plus prononcé. Chi3L1 n'est jamais trouvé dans les cellules de sujets témoins; les cellules dermiques d'avant-bras sont plus sujettes à produire du Chi3L1 que celles de l'abdomen et il est probable que les patients atteints plus tôt produisent du Chi3L1 d'une façon plus constante dans les cellules dermiques des avant-bras et de l'abdomen nonobstant les autres caractéristiques de la maladie. Une caractérisation plus poussée des cellules dermiques exprimant le Chi3L1 a démontré qu'à peine de 5 à 10% des cellules totales produisent du Chi3L1 de façon spontanée. Tandis que l'OSM, une cytokine pro-inflammatoire a doublé le nombre de cellules dermiques exprimant le Chi3L1, le TGF-b, un facteur de croissance profibrotique a régulé à la baisse l'expression de Chi3L1. Les cellules exprimant le Chi3L1 ne colorent pas pour l'actine de muscle lisse, qui caractérise les myo-fibroblastes matures, suggérant que le Chi3L1 n'est pas associé à la fibrose. Les cellules produisant le Chi3L1 de façon endogène ont aussi exprimé pour le nestine, CD73, STRO-1, TIE2, LSP-1 et NG-2 (qui sont tous des marqueurs de cellules souches/progénitrices). Ces cellules n'ont pas été détectées dans les préparations de cellules dermiques témoins. Quelques préparations cellulaires dermiques SSc contiennent aussi une population de cellules associées aux fibroblastes qui peuvent sécréter Chi3L1 quand elles sont stimulées par l'OSM. Donc, l'expression de Chi3L1 endogène ainsi que induite par l'OSM a permis d'identifier des populations de cellules dermiques dans les patients atteints de SSc qui pourraient être associés à une étape passagère dans la transition des cellules souches/progénitrices qui se développent en cellules de type fibroblastes en fibroblastes matures. En résumé, l'expression du Chi3L1 pourrait être un marqueur des cellules « actives » pour permettre un pool de fibroblastes dans le derme de patients atteints de SSc.
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Shurte, Leah A. "Determining Protein-Protein Interactions of ALS-Associated SOD1." Wright State University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=wright1464283630.
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Hale, Amber N. "ANALYSIS OF THE ROLE OF TWO AUTOPHAGY PATHWAY RELATED GENES, BECN1 AND TSC1, IN MURINE MAMMARY GLAND DEVELOPMENT AND DIFFERENTIATION." UKnowledge, 2014. http://uknowledge.uky.edu/biology_etds/18.
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The mammary gland is a dynamic organ that undergoes the majority of its development in the postnatal period in four stages; mature virgin, pregnancy, lactation, and involution. Every stage relies on tightly regulated cellular proliferation, programmed cell death, and tissue remodeling mechanisms. Misregulation of autophagy, an intracellular catabolic process to maintain energy stores, has long been associated with mammary tumorigenesis and other pathologies. We hypothesize that appropriate regulation and execution of autophagy are necessary for proper development of the mammary ductal tree and maintenance of the secretory epithelia during late pregnancy and lactation. To test this hypothesis we examined the role of two genes during development of the mammary gland.
Beclin1 (Becn1) is an essential autophagy gene. Since the Becn1 knockout model is embryonic lethal, we have generated a Becn1 conditional knockout (cKO). We used two discrete mammary gland-specific Cre transgenic lines to interrogate the role of BECN1 during development. We report that MMTV-CreD; Becn1fl/fl mice have a hyper-branching phenotype and WAP-Cre; Becn1fl/- mice are unable to sustain a lactation phase. Becn1 mutants exhibit abnormal glandular morphology during pregnancy and after parturition. Moreover, when autophagy is chemically inhibited in vitro, mammary epithelial cells have an increased mean number of lipid droplets per cell.
MTOR inhibits autophagy upstream of BECN1; we looked higher in the regulatory pathway for regulatory candidates. It has been well characterized that Tuberous sclerosis complex 1 (TSC1), in a heterodimer with its primary binding partner TSC2, inhibits MTOR signaling via inhibition of RHEB. Using the Tsc1 floxed model we generated a mammary gland specific Tsc1 cKO and found that these mice phenocopy the Becn1 cKO mice, including a gross lactation failure. Tsc1 cKO glands have altered morphology, retained lipid droplets in secretory epithelia, and an overall increase in MTOR signaling. We show that TSC1 and BECN1 are interacting partners, and that the interaction is nutrient responsive.
These results suggest that Becn1 and Tsc1 are necessary for proper mammary gland development and differentiation. Furthermore, we have demonstrated a novel murine protein-protein interaction and an important link between regulation of MTOR pathway and regulation of autophagy in a developmental context.
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Colasanti, Alessandro. "Positron emission tomography imaging of neuroinflammation in Multiple Sclerosis with a second generation translocator protein PET radioligand." Thesis, Imperial College London, 2014. http://hdl.handle.net/10044/1/25285.
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This thesis describes a new approach for molecular imaging of neuroinflammation in Multiple Sclerosis (MS). My aim was to use the 2nd generation TSPO radioligand 18F-PBR111 to explore the potential of Positron Emission Tomography (PET) targeting the 18-kDa Translocator Protein (TSPO), as an in vivo biomarker of activated microglia in MS patients. This thesis addresses three research objectives. First, I characterised 18F-PBR111 PET signal in healthy controls’ brains and tested how it is affected by the TSPO gene polymorphism at rs6971. Second, I measured 18F-PBR111 uptake across white matter volumes segmented using structural MRI measures related to MS neuropathology. Third, I explored how 18F-PBR111 uptake in the hippocampus correlated with depressive symptoms and to the brain functional connectivity of the hippocampus. Eleven patients with relapsing-remitting MS and 22 age-matched healthy controls underwent 18F-PBR111 PET and MRI scans. Structural and functional MRI sequences were used to define conventional MS neuropathological markers and for the assessment of functional connectivity, respectively. I discovered that white matter 18F-PBR111 PET signal in healthy volunteers varied with TSPO genotype and correlated positively with age. In patients with MS, signal intensity in MRI-defined lesions was higher than that in normal-appearing white matter and correlated with the historical rate of progression of their disability. Hippocampal 18F-PBR111 uptake was higher in the MS patient group than in healthy volunteers and correlated with both depressive symptoms and functional connectivity of the hippocampus with frontal, temporal and parietal cortex. I thus discovered that this 2nd generation TSPO PET radiotracer, used in humans for the first time in our study, is sensitive to MS neuropathology consistent with recognized patterns of microglial activation and that differences between subjects can be related to disability progression. I also have discovered a novel relationship between this measure of hippocampal microglial activation and affective symptoms of MS.
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Zhang, Wendy W. "The Role of ALS8-linked VAMP-associated Protein B (VAPB) in Caenorhabditis elegans Motor Neurons." Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32242.
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Amyotrophic Lateral Sclerosis (ALS) is a fatal, late-onset, progressive neurodegenerative disease. A familial form of ALS, autosomal dominant ALS8, is characterized by a mutation in an ER membrane protein, VAPB. To characterize the role of VAPB in motor neurons, two C. elegans models were generated: one expressing human VAPB-P56S and another with the knockdown of C. elegans VAPB ortholog, VPR-1. Overexpression of human VAPB in DA neurons caused backward locomotion defects, enhanced vulnerability to oxidative stress and premature neuronal death. Knockdown of vpr-1 in C. elegans recapitulated the loss of protein function believed to be associated with human cases of ALS8. It caused backward locomotion defects, such as uncoordination and slowed rates of movement, as well as age-dependent motor neuronal death. In both models, DA6 and DA7 were the most vulnerable motor neurons. Because of the unexpected developmental defects associated with the VAPB transgenic model, the knockdown of vpr-1 may be a better model to recapitulate the human disease. This model provides further support that ALS8 pathogenesis is due to a loss of VAPB protein function and can also be used to test drugs or treatments that may delay the onset of neuronal death.
Books on the topic "Tuberous sclerosis 1 protein"
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Yasumasa, Ishibashi, Hori Yoshiaki, and Japan Intractable Diseases Research Foundation., eds. Tuberous sclerosis and neurofibromatosis: Epidemiology, pathophysiology, biology, and management : proceedings of the International Symposium on Neurocutaneous Syndrome, 17-19 October 1989, Tokyo, Japan. Excerpta Medica, 1990.
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Hsieh, David T., and Elizabeth A. Thiele. Ketogenic Diet for Other Epilepsies. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0007.
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The ketogenic diet is the treatment of choice for epilepsy in certain disorders of brain metabolism, in particular glucose transporter protein 1 deficiency and pyruvate dehydrogenase deficiency. The International Ketogenic Diet Study Group has listed several other conditions for which the ketogenic diet has been reported as being particularly beneficial and could be offered earlier. Whether efficacy in these conditions is due in part to the broad-spectrum efficacy of the ketogenic diet or to specific mechanisms specific to these conditions is still under investigation. This chapter discusses the use of dietary therapies for the treatment of epilepsy in certain genetic disorders, including Rett syndrome and tuberous sclerosis complex, as listed by the International Ketogenic Diet Study Group, and additionally discusses the use of epilepsy dietary therapies in patients with Angelman syndrome and Sturge-Weber syndrome.
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Grant, Robert. Neurocutaneous syndromes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0235.
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This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.
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Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.
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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)
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O’Neill, Brian P., Jeffrey Allen, Mitchell S. Berger, and Rolf-Dieter Kortmann. Astrocytic tumours: pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0002.
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Pilocytic astrocytoma (PA) (World Health Organization (WHO) grade I). A relatively circumscribed, slow-growing, often cystic astrocytoma occurring in children and young adults, histologically characterized by a biphasic pattern with varying proportions of compacted bipolar cells associated with Rosenthal fibres and loose-textured multipolar cells associated with microcysts and eosinophilic granular bodies. Most PAs are localized, macrocystic, and only marginally infiltrative. However some PAs, such as those arising in the optic pathways, are rarely cystic and may have an extensive infiltrative pattern but within a neuroanatomic pathway. Pleomorphic xanthoastrocytoma (PXA) (WHO grade II). An astrocytic neoplasm with a relatively favourable prognosis, typically encountered in children and young adults, with superficial location in the cerebral hemispheres and involvement of the meninges; characteristic histological features include pleomorphic and lipidized cells expressing glial fibrillary acidic protein and often surrounded by a reticulin network as well as eosinophilic granular bodies. Subependymal giant cell astrocytoma (SEGA) (WHO grade I). A benign, slow-growing tumour typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis.
Book chapters on the topic "Tuberous sclerosis 1 protein"
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Gilbert, Patricia. "Tuberous sclerosis." In The A-Z Reference Book of Syndromes and Inherited Disorders. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_83.
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Hunt, A. "Tuberous sclerosis." In Profound Retardation and Multiple Impairment. Springer US, 1987. http://dx.doi.org/10.1007/978-1-4899-7146-3_5.
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Orellana, Juan, and Alan H. Friedman. "Tuberous Sclerosis." In Clinico-Pathological Atlas of Congenital Fundus Disorders. Springer New York, 1993. http://dx.doi.org/10.1007/978-1-4613-9320-7_47.
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Bergner, Amanda. "Tuberous Sclerosis." In Genetic Counseling for Adult Neurogenetic Disease. Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_24.
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Chen, Harold. "Tuberous Sclerosis." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_237.
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Pacha, Omar, and Adelaide Hebert. "Tuberous Sclerosis." In Acneiform Eruptions in Dermatology. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8344-1_33.
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Sampson, Julian R., and Julia C. Lewis. "Tuberous Sclerosis." In Genetics and Genomics of Neurobehavioral Disorders. Humana Press, 2003. https://doi.org/10.1007/978-1-59259-353-8_7.
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Pakbaz, Sara, Anjelica Hodgson, and Ozgur Mete. "Tuberous Sclerosis." In Encyclopedia of Pathology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-28845-1_5333-1.
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Novegno, Federica, and Concezio Di Rocco. "Tuberous Sclerosis." In Textbook of Pediatric Neurosurgery. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-31512-6_45-1.
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Chen, Harold. "Tuberous Sclerosis." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_237-2.
Full textConference papers on the topic "Tuberous sclerosis 1 protein"
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Moura, Ludmila Sandy Alves, André Taumaturgo Cavalcanti Arruda, and Mário Luciano de Melo Silva Júnior. "Case Report of Tuberous Sclerosis with early West Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.542.
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Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.
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Hernandez, M. A., M. A. Ba, J. Evasovic, and C. A. Singer. "Dysregulation of microRNA-25 Modulates Airway Smooth Muscle Cell Proliferation via the Mammalian Target of Rapamycin Pathway by Targeting Tuberous Sclerosis Complex 1." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a2852.
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Safronova, N. A., T. S. Kurkin, M. B. Shevtsov, et al. "SAMPLE PREPARATION OF A RECEPTOR ASSOCIATED WITH MULTIPLE SCLEROSIS PATHOGENESIS FOR STRUCTURAL STUDIES USING CRYOELECTRON MICROSCOPY." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-370.
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In this work, we study the GPCR class A receptor (rhodopsin-like) which is phylogenetically close to cysteinyl leukotriene and purine receptors. It is expressed in oligodendrocyte progenitor cells and regulates formation of the myelin sheath of neurons. To determine the structure of this receptor by cryoelectron microscopy, we created a stable and monomeric protein sample.
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Krylov, M., L. Ananieva, O. Koneva, et al. "AB0659 Association between -12518A/G gene polymorphism encoding monocyte chemoattractant protein 1 (MCP-1) and serum level of C-reactive protein in different clinical and serological phenotypes of systemic sclerosis in the russian cohort of patients." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.3130.
Full textReports on the topic "Tuberous sclerosis 1 protein"
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Yoshii, Akira, and Martha Constantine-Patton. Studying Protein Synthesis-Dependent Synaptic Changes in Tuberous Sclerosis. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada582389.
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