Relevant bibliographies by topics / GM1 Gangliosidosis

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Academic literature on the topic 'GM1 Gangliosidosis'

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Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "GM1 Gangliosidosis"

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Abdullahi, Sakina M., Hafsat W. Idris, Halima A. Sadiku, and El-ishaq Abubakar. "GM1-gangliosidosis in a Nigerian infant: A case report." Nigerian Journal of Paediatrics 48, no. 1 (February 4, 2021): 50–53. http://dx.doi.org/10.4314/njp.v48i1.10.

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Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta-galactosidase (GLB11) resulting in the storage of the substrate- GM1 ganglioside in brain and visceral organs. GM1 gangliosidosis comprises three phenotypes, depending on the age of onset: an infantile, juvenile and adult type. In the infantile type dysmorphic features, severe psychomotor retardation, hepatosplenomegaly, bone changes and a cherry red spot in the macular region are seen. The juvenile GM1 gangliosidosis has no such external distinguishing features. In the adult type behavioural problems, dementia, extrapyramidal problems are specifically prominent. The authors present symptoms, clinical course and laboratory findings of a one-year-old boy with a diagnosed GM1 gangliosidosis. He presented with skin rashes since birth, delay in achievement of developmental milestones, progressive weight loss and recurrent diarrhoea of six-months duration.
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Obradovic, Slobodan, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, and Jasmina Djindjic. "GM1 gangliosidosis: Case report." Medical review 63, no. 5-6 (2010): 427–30. http://dx.doi.org/10.2298/mpns1006427o.

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Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.
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Murnane, R. D., A. J. Ahern-Rindell, and D. J. Prieur. "Ovine GM1 gangliosidosis." Small Ruminant Research 6, no. 1-2 (October 1991): 109–18. http://dx.doi.org/10.1016/0921-4488(91)90014-h.

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Draïss, Ghizlane, Adil Fouad, Nourddine Rada, Ouafa Hocar, Naima Fdil, and Mohamed Bouskraoui. "Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots." Open Pediatric Medicine Journal 9, no. 1 (January 31, 2019): 1–4. http://dx.doi.org/10.2174/1874309901909010001.

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Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway. Observation: In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature. Conclusion: The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.
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Satoh, Hiroyuki, Toyofumi Yamauchi, Masahiro Yamasaki, Yoshimitsu Maede, Akira Yabuki, Hye-Sook Chang, Taketoshi Asanuma, and Osamu Yamato. "Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry." Journal of Veterinary Diagnostic Investigation 23, no. 6 (October 24, 2011): 1202–7. http://dx.doi.org/10.1177/1040638711425592.

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The concentration of GM1 (monosialotetrahexosyl ganglioside) in cerebrospinal fluid (CSF) is markedly increased in dogs with GM1 gangliosidosis due to GM1 accumulation in the central nervous system and leakage to the CSF. The present study established a rapid and simple method for detection of accumulated GM1 in the CSF in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI TOF MS) and discusses the usefulness of this method for the rapid diagnosis and/or high-risk screening of this disease in domestic animals. Cerebrospinal fluid was collected from normal dogs and 4- to 11-month-old Shiba dogs with GM1 gangliosidosis. The MALDI TOF MS analysis was carried out in combination with a special sample plate and a simple desalting step on the plate. Specific signs of GM1 could be detected in the standard GM1 solutions at concentrations of 50 nmol/l or more. The signs were also clearly detected in CSF (131–618 nmol/l) in affected dogs, but not in normal canine CSF (12 ± 5 nmol/l, mean ± standard deviation). The results demonstrated that MALDI TOF MS can detect GM1 accumulated in canine CSF even in the early stage of the disease. In conclusion, the rapid detection of increased CSF GM1 using MALDI TOF MS is a useful method for diagnosis and/or screening for canine GM1 gangliosidosis.
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Luu, Amanda R., Cara Wong, Vishal Agrawal, Nathan Wise, Britta Handyside, Melanie J. Lo, Glenn Pacheco, et al. "Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency." Journal of Biological Chemistry 295, no. 39 (July 28, 2020): 13556–69. http://dx.doi.org/10.1074/jbc.ra119.010794.

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Mutations in the galactosidase β 1 (GLB1) gene cause lysosomal β-galactosidase (β-Gal) deficiency and clinical onset of the neurodegenerative lysosomal storage disease, GM1 gangliosidosis. β-Gal and neuraminidase 1 (NEU1) form a multienzyme complex in lysosomes along with the molecular chaperone, protective protein cathepsin A (PPCA). NEU1 is deficient in the neurodegenerative lysosomal storage disease sialidosis, and its targeting to and stability in lysosomes strictly depend on PPCA. In contrast, β-Gal only partially depends on PPCA, prompting us to investigate the role that β-Gal plays in the multienzyme complex. Here, we demonstrate that β-Gal negatively regulates NEU1 levels in lysosomes by competitively displacing this labile sialidase from PPCA. Chronic cellular uptake of purified recombinant human β-Gal (rhβ-Gal) or chronic lentiviral-mediated GLB1 overexpression in GM1 gangliosidosis patient fibroblasts coincides with profound secondary NEU1 deficiency. A regimen of intermittent enzyme replacement therapy dosing with rhβ-Gal, followed by enzyme withdrawal, is sufficient to augment β-Gal activity levels in GM1 gangliosidosis patient fibroblasts without promoting NEU1 deficiency. In the absence of β-Gal, NEU1 levels are elevated in the GM1 gangliosidosis mouse brain, which are restored to normal levels following weekly intracerebroventricular dosing with rhβ-Gal. Collectively, our results highlight the need to carefully titrate the dose and dosing frequency of β-Gal augmentation therapy for GM1 gangliosidosis. They further suggest that intermittent intracerebroventricular enzyme replacement therapy dosing with rhβ-Gal is a tunable approach that can safely augment β-Gal levels while maintaining NEU1 at physiological levels in the GM1 gangliosidosis brain.
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Denis, Robert, Jean-Louis Wayemberg, Michèle Vermeulen, Frans Gorus, Inge Liebaers, and Esther Vamos. "Hyperphosphatasemia in GM1 gangliosidosis." Journal of Pediatrics 120, no. 1 (January 1992): 164. http://dx.doi.org/10.1016/s0022-3476(05)80630-4.

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Pavlu, Jiri, Marie Jackson, and Nicki Panoskaltsis. "GM1-gangliosidosis type I." British Journal of Haematology 135, no. 4 (November 2006): 422. http://dx.doi.org/10.1111/j.1365-2141.2006.06287.x.

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Roze, Emmanuel, Soledad Navarro, Philippe Cornu, Marie-Laure Welter, and Marie Vidailhet. "DEEP BRAIN STIMULATION OF THE GLOBUS PALLIDUS FOR GENERALIZED DYSTONIA IN GM1 TYPE 3 GANGLIOSIDOSIS." Neurosurgery 59, no. 6 (December 1, 2006): E1340. http://dx.doi.org/10.1227/01.neu.0000245620.24603.1b.

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Abstract OBJECTIVE GM1 Type 3 gangliosidosis is a lysosomal storage disorder for which no specific treatment is available. It is characterized by progressive generalized dystonia, which is refractory to pharmacological treatment and results in severe disability and life-threatening complications. We performed bilateral pallidal stimulation in a patient with GM1 gangliosidosis and report the 12-month postoperative course. CLINICAL PRESENTATION A 24-year old woman presented with genetically confirmed GM1 gangliosidosis, resulting in severe progressive generalized dystonia. INTERVENTION Leads were implanted bilaterally into the internal part of the globus pallidus under stereotactic guidance. At follow-up visits, both the patient and the neurologists who performed the assessment were unaware of whether the neurostimulator was on or off. The patient was videotaped with a standardized protocol and scored by an independent expert. CONCLUSION After 1 year of follow-up, double-blind comparison of the patient's status with and without neurostimulation showed a 20% improvement, with a significant functional benefit, but no change in disease progression. Although further studies are needed to evaluate this therapeutic approach, this report suggests that pallidal stimulation might be a promising treatment for dystonia caused by GM1 Type 3 gangliosidosis.
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Chen, Joseph C., Amanda R. Luu, Nathan Wise, Rolando De Angelis, Vishal Agrawal, Linley Mangini, Jon Vincelette, et al. "Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice." Journal of Biological Chemistry 295, no. 39 (September 3, 2019): 13532–55. http://dx.doi.org/10.1074/jbc.ra119.009811.

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Autosomal recessive mutations in the galactosidase β1 (GLB1) gene cause lysosomal β-gal deficiency, resulting in accumulation of galactose-containing substrates and onset of the progressive and fatal neurodegenerative lysosomal storage disease, GM1 gangliosidosis. Here, an enzyme replacement therapy (ERT) approach in fibroblasts from GM1 gangliosidosis patients with recombinant human β-gal (rhβ-gal) produced in Chinese hamster ovary cells enabled direct and precise rhβ-gal delivery to acidified lysosomes. A single, low dose (3 nm) of rhβ-gal was sufficient for normalizing β-gal activity and mediating substrate clearance for several weeks. We found that rhβ-gal uptake by the fibroblasts is dose-dependent and saturable and can be competitively inhibited by mannose 6-phosphate, suggesting cation-independent, mannose 6-phosphate receptor–mediated endocytosis from the cell surface. A single intracerebroventricularly (ICV) administered dose of rhβ-gal (100 μg) resulted in broad bilateral biodistribution of rhβ-gal to critical regions of pathology in a mouse model of GM1 gangliosidosis. Weekly ICV dosing of rhβ-gal for 8 weeks substantially reduced brain levels of ganglioside and oligosaccharide substrates and reversed well-established secondary neuropathology. Of note, unlike with the ERT approach, chronic lentivirus-mediated GLB1 overexpression in the GM1 gangliosidosis patient fibroblasts caused accumulation of a prelysosomal pool of β-gal, resulting in activation of the unfolded protein response and endoplasmic reticulum stress. This outcome was unsurprising in light of our in vitro biophysical findings for rhβ-gal, which include pH-dependent and concentration-dependent stability and dynamic self-association. Collectively, our results highlight that ICV-ERT is an effective therapeutic intervention for managing GM1 gangliosidosis potentially more safely than with gene therapy approaches.
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Dissertations / Theses on the topic "GM1 Gangliosidosis"

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Kannebley, João Stein 1971. "Aspectos clínicos, radiológicos e neuroimagem em 12 pacientes com Gangliosidose GM1, formas juvenil e crônica." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312528.

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Orientador: Carlos Eduardo Steiner
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: A gangliosidose GM1 é uma doença rara causada pela deficiência da enzima ?-galactosidase, decorrente de mutações no gene GLB1, acarretando o acúmulo de gangliosídeos, principalmente o GM1. É classificada em três formas dependendo da idade de início dos sintomas. Em todas ocorrem alterações esqueléticas e deterioração neurológica, sendo que na forma adulta predominam sinais extrapiramidais como distonia. No presente estudo descrevemos as características de 12 pacientes com gangliosidose GM1 nas formas juvenil e crônica de 10 famílias não aparentadas provenientes da região de Campinas, SP, e do sul do estado de Minas Gerais. Foram detalhados a história clínica e o exame físico, em especial o neurológico, bem como de aspectos radiológicos, ultrassonográficos, ecocardiográficos e de neuroimagem. Metade dos casos iniciou com queixas ósteo-articulares e outra metade com sintomas neurológicos, porém com a evolução todos apresentaram uma combinação de disostose múltipla e neurodegeneração. Opacificação de córnea e angioqueratomas foram vistos em um caso, cada. Outros sinais comumente associados às doenças de depósito lisossômico não foram vistos nesta casuística. Todos apresentaram baixa estatura, disostose múltipla, disartria e prejuízo nas atividades de vida diária, 10 tinham distonia e disfagia, nove atrofia muscular e oito sinais piramidais e alterações da movimentação ocular. Barra óssea e os odontoideum foram vistos em dois casos, sendo alterações previamente não descritas nessa condição. Exames de neuroimagem mostraram aumento do sistema ventricular e hipointensidade de sinal em globos pálidos em todos, além de deformidades vertebrais, hiperintensidade de sinal de putâmen e atrofia cortical na maioria. Alterações em tálamo, substância branca ou atrofia cerebelar não foram identificadas nessa série
Abstract: GM1 gangliosidosis is a rare disorder caused by deficiency in ?-galactosidase activity due to mutations in the GLB1 gene, leading to acumulation of gangliosides in multiple organs. Three main clinical forms have been described according to the age of onset. All present with skeletal deformities and neurologic deterioration, and in the adult form extrapyramidal signs including dystonia are frequent. In the present study we describe 12 subjects of 10 unrelated families from the region of Campinas and the southern state of Minas Gerais. Clinical information included detailed history, full neurologic examination, radiologic, ultrasonographic, echocardiographic, and neuroimaging description. Half of subjects presented initially with skeletal deformities, while the remaining opened clinical presentation with neurologic features. However, over time all presented dysostosis multiplex and neurodegeneration. Corneal clouding and angiokeratomas were seen in one individual each. Other features commonly described in lysosomal storage disorders were not found in this series. All subjects presented with short stature, dysostosis multiplex, dysarthria, and impairment of activities of daily living, 10 had extrapyramidal signs, nine had muscular atrophy, and eight had pyramidal signs and mild oculomotor abnormalities. A vertebral bone bar and os odontoideum were found in two patients, being previously undescribed in this condition. Neuroimaging revealed enlargement of the ventricular system and hypointensity of globus pallidus in all, besides vertebral deformities, putaminal hyperintensity, and cortical atrophy in most patients. Thalamic changes, abnormal white matter or cerebellar atrophy were not seen in this series
Mestrado
Genetica Medica
Mestre em Ciências Médicas
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Elliot-Smith, Elena. "GM1 gangliosidosis : therapy and pathogenesis." Thesis, University of Oxford, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425028.

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Baptista, Marcella Bergamini de 1988. "Análise de mutações no gene GLB1 em pacientes com gangliosidose GM1 formas juvenil e crônica." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308543.

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Orientador: Carlos Eduardo Steiner
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: Gangliosidose GM1 é uma doença autossômica recessiva rara, classificada em três formas clínicas de acordo com a idade de apresentação dos sintomas e a gravidade, provocada pela deficiência da enzima lisossômica ?-galactosidase que leva ao acúmulo, principalmente, do gangliosídeo GM1. A forma juvenil geralmente apresenta início entre sete meses e três anos de idade, com progressão lenta dos sinais neurológicos, dimorfismos menos graves que na forma infantil e deformidades ósseas. A forma crônica é caracterizada por apresentações clínicas mais leves e sintomas extrapiramidais. O gene codificador da enzima é o GLB1, no qual mais de 130 mutações foram descritas. No presente estudo foi realizada a caracterização molecular de 10 indivíduos de nove famílias não relacionadas diagnosticados com gangliosidose GM1, nas formas juvenil e crônica. Todas as famílias são originárias do interior do estado de São Paulo ou do sul do estado de Minas Gerais. Para a análise realizada foi possível identificar a mutação anteriormente descrita p.T500A, em sete das nove famílias estudadas, a inserção c.1717- 1722insG e a mutação p.R59H foram encontradas em duas famílias (a última segregou juntamente com o polimorfismo descrito IVS12+8T>C). As demais mutações descritas (p.F107L, p.L173P, p.R201H, p.G311R) foram encontradas em uma família cada. Uma alteração neutra (p.P152P) e duas mutações (p.I354S e p.T384S) são inéditas. Foi possível identificar a ocorrência de uma mutação de novo em uma família. Todas as mutações foram encontradas em heterozigose
Abstract: GM1 gangliosidosis is a rare autosomal recessive, classified in three clinical types according to age of onset and severity. The disease is caused by the deficiency of lysosomal enzyme ?-galactosidase that leads to the accumulation of GM1 ganglioside. The juvenile form usually shows an onset between seven months and three years of age, with slowly progressive neurological signs, less severe dysmorphisms than the infantile form and skeletal changes. The adult form is specified by a milder clinical manifestations and extrapyramidal signs. The lysossomal enzyme is coded by the GLB1 gene which more than 130 mutations have been decribed. In the present study it was genotyped 10 individuals of nine unrelated families originated from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. It was possible to find the previously described mutations p.T500A in seven of the nine families, c.1717-1722insG and p.R59H in two alleles (the latter also segregating with IVS12+8T>C), and p.F107L, p.L173P, p.R201H, and p.G311R in one familie each. One neutral alteration (p.P152P) and two mutations (p.I354S and p.T384S) are described for the first time. The occurrence of a de novo mutation was seen in one family. All patients presented as heterozygous compound
Mestrado
Ciencias Biomedicas
Mestra em Ciências Médicas
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Heinecke, Karie A. "Myelin abnormalities in the optic and sciatic nerves of mice with GM1-gangliosidosis." Thesis, Boston College, 2014. http://hdl.handle.net/2345/bc-ir:103611.

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Thesis advisor: Thomas N. Seyfried
GM1 gangliosidosis is a glycosphingolipid lysosomal storage disease caused by a genetic deficiency of acid b-galactosidase (β-gal), the enzyme that catabolyzes GM1 within lysosomes. Accumulation of GM1 and its asialo form (GA1) occurs primarily in the brain, leading to progressive neurodegeneration and brain dysfunction. Less information is available on the neurochemical pathology in optic nerve and sciatic nerve of GM1- gangliosidosis. Here we analyzed the lipid content and myelin structure in optic and sciatic nerve in 7 and 10 month old normal β-gal (+/?) and GM1-gangliosidosis β-gal (-/-) mice. Optic nerve weight was lower in the β-gal -/- mice than in unaffected β-gal +/? mice, but no difference was seen between the normal and the β-gal -/- mice for sciatic nerve weight. The concentrations of GM1 and GA1 were significantly higher in optic nerve and sciatic nerve in the β-gal -/- mice than in β-gal +/? mice. The content and composition of myelin-enriched cerebrosides, sulfatides, plasmalogen ethanolamines were significantly lower in optic nerve of β-gal -/- mice than in β-gal +/? mice, however cholesteryl esters were enriched in the β-gal -/- mice. No significant abnormalities in these myelin enriched lipids were detected in sciatic nerve of the β-gal -/- mice. The abnormalities in GM1 and myelin lipids in optic nerve of β-gal -/- mice were also associated with abnormalities in the X-ray diffraction pattern including myelin content in fresh nerves [M/(M +B)] and periodicity (d). With the exception of a slight reduction in myelin content, no abnormalities in the X-ray diffraction pattern were observed in sciatic nerve of β-gal -/- mice. The results indicate that neurochemical pathology is greater in optic nerve than in sciatic nerve of β-gal -/- mice
Thesis (MS) — Boston College, 2014
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Biology
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Kreutzer, Robert. "Molecular pathogenesis, differential transcription of enzymes forming the lysosomal multienzymic complex and microsatellite based genotyping in canine GM1-gangliosidosis." Giessen : DVG-Service, 2008. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=017137159&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.

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Whalen, Michael. "Treating GM1 Gangliosidosis With Ex Vivo Hematopoietic Stem Cell Gene Therapy Without Using Total Body Irradiation: A Masters Thesis." eScholarship@UMMS, 2011. https://escholarship.umassmed.edu/gsbs_diss/558.

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GM1 gangliosidosis is an autosomal recessive lysosomal storage disease, caused by a deficiency in the enzyme β-galactosidase. The disease affects the CNS, liver, kidney, heart and skeletal system, leading to severe neurodegeneration and death. We propose to treat this disorder using ex vivo hematopoietic stem cell therapy. The effectiveness of this therapy requires the recruitment of transduced donor cells to the CNS. This is only found to occur after mice are conditioned with total body irradiation, due to the increase in CNS cytokine production and blood brain barrier permeability that occurs. As the use of total body irradiation in pediatric patients has been linked to future developmental problems, this myeloablation approach is often avoided in younger patients in favor of a conditioning regimen using the chemotherapy drugs, busulfan and cyclophosphamide. Whether donor cells can enter the CNS when a busulfan and cyclophosphamide conditioning regimen is used has not been determined. In this study we plan to quantify the cytokine and blood-brain barrier permeability increases necessary for donor cells to be recruited to the CNS after total body irradiation. We will then investigate whether busulfan and cyclophosphamide conditioning and/or the chronic neuroinflammation present in GM1 mice can produce similar conditions and facilitate the recruitment of donor hematopoietic stem cells to the CNS. Finally we will assess whether ex vivo hematopoietic stem cell gene therapy is still an effective therapy when busulfan and cyclophosphamide are used for myeloablative conditioning.
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Weismann, Cara M. "Approaches and Considerations Towards a Safe and Effective Adeno-Associated Virus Mediated Therapeutic Intervention for GM1-Gangliosidosis: A Dissertation." eScholarship@UMMS, 2014. http://escholarship.umassmed.edu/gsbs_diss/767.

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GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency in the catabolizing enzyme β-galactosidase (βgal). This leads to accumulation of GM1-ganglioside (GM1) in the lysosome inducing ER stress and cell death. GM1 gangliosidosis is primarily a disorder of the central nervous system (CNS) with peripheral organ involvement. In this work we report two major findings, 1) systemic treatment of GM1 gangliosidosis with an adenoassociated virus (AAV9) encoding mouse-βgal (mβgal) in a GM1 gangliosidosis mouse model (βGal-/-), and 2) an investigation into an intracranial injection of a therapeutic AAVrh8 encoding mβgal. Systemic treatment of GM1 gangliosidosis with AAV9 resulted in a moderate expression of enzyme in the CNS, reduction of GM1 storage, significant retention of motor function and a significant increase in lifespan. Interestingly, the therapeutic effect was more robust in females. Intracranial injections of AAVrh8 vector expressing high levels of βgal resulted in enzyme spread throughout the brain, significant retention of motor function and a significant increase in lifespan. Histological alterations were also found at the injection site in both βGal-/- and normal animals. We constructed a series of vectors with a range of decreasing enzyme expression levels to investigate the cause for the unanticipated result. Microarrays were performed on the injection site and we showed that a lower expressing AAVrh8-mβgal vector mitigated the negative response. Intracranial injection of this newly developed vector was shown to clear lysosomal storage throughout the CNS of βGal-/- mice. Taken together, these studies indicate that a combined systemic and fine-tuned intracranial approach may be the most effective in clearing lysosomal storage completely in the CNS while providing therapeutic benefit to the periphery.
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Kreutzer, Robert [Verfasser]. "Molecular pathogenesis, differential transcription of enzymes forming the lysosomal multienzymic complex and microsatellite based genotyping in canine GM1-gangliosidosis / by Robert Kreutzer." Gießen : DVG-Service, 2008. http://d-nb.info/997441550/34.

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Domingos, Priscila Perez. "Comparação dos efeitos do gangliosideo GM1 e do fator de crescimento neural (NGF) sobre a expressão de receptor de alta afinidade para NGF, TrkA e insulina em ilhotas pancreaticas isoladas de camundongos NOD (diabetico não obeso)." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313486.

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Orientador: Ricardo de Lima Zollner
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: O camundongo não obeso diabético (NOD) é caracterizado por desenvolver naturalmente diabetes mellitus tipo 1 (DM-1) com similaridade ao diabetes mellitus tipo 1 em humanos. A manifestação espontânea do diabetes neste modelo animal é caracterizado por infiltração progressiva das ilhotas de Langerhans por células mononucleares linfócitos T (CD4+ e CD8+) e destruição das células ß pancreáticas produtoras de insulina. O fator de crescimento neural (NGF) e algumas citocinas estão associados a regeneração neural, além de atuarem sobre células do sistema imune. Em adição a estes efeitos, NGF age na liberação de insulina pelas células betas das ilhotas pancreáticas, tornando-se foco de interesse com relação as suas propriedades moduladoras no processo inflamatório na ilhota pancreática. O gangliosídeo GM1 liga-se ao receptor de alta afinidade (TrkA) do NGF-ß, mimetizando seus efeitos. No presente trabalho, avaliamos a ação modulatória de GM1 e NGF em cultura de ilhotas pancreáticas, provenientes de camundongos NOD. Foram avaliados por meio de RT-PCR a expressão gênica de NGF-ß, TrkA e insulina e, por ensaio imunoenzimático, a concentração de citocinas IL-1ß, IL-12, TNF-a, INF-y e insulina. Nossos resultados sugerem ação moduladora similar entre GM1 e NGF sobre as ilhotas de NOD não diabéticos e pré-diabéticos. NGF e GM1 aumentam a expressão gênica de NGF e TrkA e diminuem a expressão gênica de insulina em NOD não diabéticos e pré-diabéticos. Além disso, aumentam a liberação de insulina e diminui a de citocinas inflamatórias IL-1ß, IL-12, TNF-a, IFN-y que caracterizam a resposta Th1.
Abstract: The non-obese diabetic mice (NOD) lineage is characterized by developing type 1 diabetes mellitus (DM-1) naturally, bearing a similarity to DM-1 in human beings. The spontaneous manifestation of diabetes is characterized by gradual infiltration in pancreatic islets by mononuclear cells lymphocytes T (CD4+ and CD8+) and destruction of the ß-cells producers of insulin. One consequence of this effect, is the release of neurotrophins trying modulate the insulin release by the ß cells of pancreatic islets. Thus, the neurotrophins have been the focus of interest in the modulation of the inflammatory process in the pancreatic islets. The ganglioside GM1 binds to the high affinity receptor (TrkA) of the NGF-ß, enhancing its effect. In the present work, we evaluate the immune modulation properties of GM1 and NGF in culture of pancreatic islets from NOD mice. The gene expression of NGF-ß, TrkA and insulin for immune enzymatic assay, the concentration of cytokines IL 1ß, IL-12, TNF-a, IFN-y and insulin were evaluated by RT-PCR and ELISA. Our results suggest similar modulation action between GM1 and NGF on islets of NOD non-diabetic and pre-diabetic. GM1 and NGF action increases the gene expression of NGF and TrkA and the decrease of insulin in mice NOD non-diabetic and pre-diabetic. Moreover, GM1 and NGF increase the insulin release and decrease inflammatory cytokines that characterize the Th1 reply.
Doutorado
Ciencias Basicas
Doutor em Clínica Médica
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Arthur, Julian. "Novel Therapies and Biochemical Insights for the GM1 and GM2 Gangliosidoses." Thesis, Boston College, 2011. http://hdl.handle.net/2345/3855.

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Thesis advisor: Thomas N. Seyfried
Gangliosides are glycosphingolipids (GSLs) containing sialic acids that play numerous roles in neuronal maturation, apoptotic signaling, angiogenesis, and cell surface receptor activity. The GM1 and GM2 gangliosidoses are a series of autosomal recessive lysosomal storage disorders (LSDs) characterized by an inability to degrade these lipid molecules. GM1 gangliosidosis is caused by a mutation in the lysosomal hydrolase β-galactosidase, resulting in neuronal storage of ganglioside GM1 and asialo GA1. Tay-Sachs (TS) and Sandhoff Disease (SD) are GM2 gangliosidoses caused by mutations in either the α or β subunits, respectively, of the heterodimeric protein β- hexosaminidase A, resulting in the storage of ganglioside GM2 and asialo GA2. The accumulation of excess ganglioside in the central nervous system leads to abnormal intracellular vacuoles, neuronal loss, demyelination, ataxia, dementia, and premature death. In my studies, I have shown that accumulation of GM1 ganglioside may not coincide with secondary storage of cholesterol, by providing evidence that cholesterol-binding fluorescent molecule filipin reacted to GM1 ganglioside in the absence of cholesterol. In an effort to combat the early-onset gangliosidoses, I have explored the effects of combining Neural Stem Cells (NSCs) with Substrate Reduction Therapy (SRT) in juvenile Sandhoff mice. The analysis showed that SRT was more effective than NSCs in reducing stored GM2 and GA2 in young mice, and no synergy was observed. In adult GM1 gangliosidosis, Tay- Sachs, and Sandhoff mice, Adeno-Associated Viral (AAV) vector gene therapy was used to restore therapeutic levels of wild-type enzyme to the CNS. AAV therapy corrected ganglioside storage and ameliorated myelin-associated lipid loss in all tissues assayed, increasing motor performance and life in effected animals. Lastly, AAV therapy was also successful in a feline model of Sandhoff disease. These results in juvenile and adult model systems point the way towards multiple effective clinical therapies in the near future
Thesis (PhD) — Boston College, 2011
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Biology
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Books on the topic "GM1 Gangliosidosis"

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Parker, James N., and Philip M. Parker. AB variant GM2-gangliosidosis: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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Roze, Emmanuel, and Frédéric Sedel. Gangliosidoses (GM1 and GM2). Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0050.

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GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.
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Holler, Larry Dean. Ectopic neuritogenesis and ganglioside alterations in ovine GM1 gangliosidosis: A developmental study. 1993.

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Ahern-Rindell, Amelia. The genetic relationship between feline GM₁ gangliosidosis and juvenile GM₁ gangliosidosis. 1985.

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Klavins, Maris Herbert. Biochemical criteria for the differentiation of clinical phenotypes in O-variant GM r gangliosidosis. Isolation and characterization of a cDNA clone coding for the full length polypeptide chain of human hexosaminidase. 1987.

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Book chapters on the topic "GM1 Gangliosidosis"

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van der Knaap, Marjo S., and Jacob Valk. "GM1 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 76–80. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_9.

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Valk, Jacob, and Marjo S. van der Knaap. "GM1 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 88–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_11.

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Kannebley, João Stein, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, and Carlos Eduardo Steiner. "Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis." In JIMD Reports, 115–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_451.

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Charria-Ortiz, Gustavo. "The GM1 Gangliosidoses." In Lysosomal Storage Disorders, 217–28. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_15.

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van der Knaap, Marjo S., and Jacob Valk. "GM2 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 81–89. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_10.

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Valk, Jacob, and Marjo S. van der Knaap. "GM2 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 91–94. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_12.

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Valk, Jacob, and Marjo S. van der Knaap. "GM3 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 148. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_27.

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Pavelka, Margit, and Jürgen Roth. "GM2 Gangliosidoses." In Functional Ultrastructure, 116–17. Vienna: Springer Vienna, 2010. http://dx.doi.org/10.1007/978-3-211-99390-3_60.

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Charria-Ortiz, Gustavo A. "The GM2 Gangliosidoses." In Lysosomal Storage Disorders, 229–56. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_16.

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Timson, David J., Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, et al. "GM2 Gangliosidosis Type I." In Encyclopedia of Molecular Mechanisms of Disease, 738–39. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3128.

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Conference papers on the topic "GM1 Gangliosidosis"

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Eikelberg, D., A. Lehmbecker, G. Brogden, W. Tongtako, K. Hahn, A. Habierski, J. B. Hennermann, et al. "Axonopathie und Reduktion des Membran-widerstands: Hauptmerkmale in einem neuen Mausmodell für die humane GM1 Gangliosidose." In 63. Jahrestagung der Fachgruppe Pathologie der Deutschen Veterinärmedizinischen Gesellschaft. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1712562.

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