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Dissertations / Theses on the topic 'Molecular aspects of Amyotrophic lateral sclerosis'

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Published: 4 June 2021
Last updated: 28 July 2025

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1

Flowers, Joanna Mary. "Molecular studies in amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027.

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2

Skinner, Thomas. "Molecular and neurological effects of fenretinide on Amyotrophic Lateral Sclerosis." Thesis, McGill University, 2009. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=32585.

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Amyotrophic Lateral Sclerosis (ALS) is the most common adult motor neuron disease. Currently there is only one modestly beneficial pharmacological treatment, Riluzole, approved by the FDA. It has been documented that polyunsaturated fatty acid (PUFA) concentrations can affect the progression of neurodegenerative conditions however most interventions rely on nutritional supplementation and have limited long-term effectiveness. This thesis describes experiments using fenretinide, a synthetic retinoid capabl
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3

Mustill, W. "The role of the molecular chaperone HSJ1 in amyotrophic lateral sclerosis." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/791950/.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterised by the selective death of motor neurons. Mutations in the SOD1 gene lead to protein misfolding and cause a dominant familial form of ALS (fALS). The accumulation of misfolded proteins in proteinaceous inclusions is a prominent pathological feature in ALS and other related neurological diseases such as Alzheimer’s disease, Huntington’s disease and Parkinson’s disease. The degradation of misfolded proteins by the proteasome involves the cooperation of molecular chaperones and ubiquitin chain recognition
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4

Andrés, Benito Pol. "Novel molecular alterations in amyotrophic lateral sclerosis and frontotemporal lobar degeneration spectrum." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/668320.

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Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are clinically distinct neurodegenerative diseases that are connected by genetic and pathological overlap. ALS patients present with muscle weakness and spasticity associated with degeneration of motor neurons in the motor cortex, brainstem, and spinal cord that ultimately leads to death. In contrast, patients with FTLD display cognitive dysfunction associated with degeneration of neurons in the frontal and temporal lobes of the brain. Despite being clinically distinct, 15% of individuals presenting FTLD also have
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5

Manser, Charlotte. "Extracellular Vesicles and the Quest for Molecular Biomarkers for Amyotrophic Lateral Sclerosis." Thesis, Université d'Ottawa / University of Ottawa, 2020. http://hdl.handle.net/10393/40949.

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Amyotrophic lateral sclerosis is a relentlessly progressive and fatal neuromuscular disease with no effective biomarkers, treatments or cure. In the early stages of ALS, it can be difficult to provide a diagnosis as patients do not meet diagnostic criteria until they become symptomatic, a sign of neuron degeneration. Early detection is therefore crucial to provide access to therapeutics prior to significant neuron loss. Extracellular vesicles are an ideal source of biomarkers as they contain a mix of proteins and nucleic acids reflective of the physiological state and are released from all cel
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6

Di, Scala Franck. "Analysis of skeletal muscle in amyotrophic lateral sclerosis : Etiological, diagnostic and therapeutic aspects." Université Louis Pasteur (Strasbourg) (1971-2008), 2005. http://www.theses.fr/2005STR13188.

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La Sclérose Latérale Amyotrophique (SLA) est une maladie neurodégénérative caractérisée par une atteinte des neurones moteurs et une paralysie progressive des muscles du squelette. Tandis que le muscle est un tissu assez peu étudié, de nombreux travaux font de lui une cible prometteuse dans la recherche sur la maladie. L'objectif de ce travail de thèse était d'explorer les modifications d'expression génétique dans le muscle squelettique affecté par la SLA en conduisant deux approches indépendantes. Dans un premier temps, nos études d'expression génique ont ciblé la protéine Nogo-A et l'isoform
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7

Pek, Sim Ruth Chia. "Investigation of molecular pathogenesis of amyotrophic lateral sclerosis and mouse models of neurodegeneration." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1444143/.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons causing a progressive fatal loss of motor function. Superoxide dismutase 1 (SOD1) was the first gene in which mutations were found to be causative in some familial ALS cases. To date, more than 140 genetic variants, with good evidence for pathogenicity in around 30 of these, have been identified in SOD1 to be causative in ALS. Although we now know that mutations in SOD1 cause the protein to acquire some unknown toxic function(s), the mechanism that leads to disease is unknown. The work presented in this
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8

Balendra, Rubika. "Molecular mechanisms and therapeutic strategies in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/10040362/.

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Background A hexanucleotide expansion in C9orf72 is a common cause of the fatal neurodegenerative disorders amyotrophic lateral sclerosis and frontotemporal dementia. We have found evidence in a Drosophila model that neurotoxicity is mediated by dipeptide repeat (DPR) proteins generated by repeat-associated non-ATG translation. Here we aimed to evaluate in models of amyotrophic lateral sclerosis and frontotemporal dementia caused by the C9orf72 mutation (C9FTD/ALS) whether DPR proteins cause nucleolar dysfunction and whether small molecules that bind C9orf72 G-quadruplex repeat RNA reduce dise
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9

Sama, Reddy Ranjith Kumar. "FUS/TLS in Stress Response - Implications for Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2014. http://escholarship.umassmed.edu/gsbs_diss/704.

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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease is a fatal neurodegenerative disease. ALS is typically adult onset and is characterized by rapidly progressive loss of both upper and lower motor neurons that leads to death usually within 3-5 years. About 90% of all the cases are sporadic with no family history while the remaining 10% are familial cases with mutations in several genes including SOD1, FUS/TLS, TDP43 and C9ORF72. FUS/TLS (Fused in Sarcoma/Translocated in Liposarcoma or FUS) is an RNA/DNA binding protein that is involved in multiple cellular functions includ
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10

Bennett, Steven Prescott. "Molecular Intervention in Mouse Models of Amyotrophic Lateral Sclerosis and Alzheimer’s Disease – Neuropathology and Behavior." Scholar Commons, 2009. http://scholarcommons.usf.edu/etd/3694.

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Neurodegeneration describes the progressive loss of structure and function of neurons, leading ultimately to cell and organism death. Although the initiating factors of neurodegenerative diseases such as Alzheimer’s, Parkinson’s, Huntington’s, and Amyotrophic Lateral Sclerosis may be different, they share common pathophysiologies. Proteinopathies, as these diseases are now termed, are characterized by atypical deposits of proteins, often due to misfolding. Associated with these deposits are dysfunctional mitochondria, oxidative stress, disrupted axonal transport, inflammation, and apoptotic ce
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11

Williams, Gonzalez Luis A. "In Vitro Studies of Amyotrophic Lateral Sclerosis Using Human Pluripotent Stem Cell-Derived Motor Neurons." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17464918.

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Among the disciplines of medicine, the study of neurological disorders such as amyotrophic lateral sclerosis (ALS) is particularly challenging. In ALS, both cortical and spinal motor neurons progressively degenerate, leading to paralysis and death. The fundamental inaccessibility and the postmitotic state of these cells prevent their isolation and culture for studies of degenerative mechanisms or for drug screening efforts. The studies presented here support the premise that human motor neurons (MNs) generated by directed differentiation of induced pluripotent (iPS) or embryonic stem cells (ES
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12

Basso, Manuela. "Proteomic analysis applied to the study of molecular mechanisms at the basis of amyotrophic lateral sclerosis." Thesis, Open University, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.446109.

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13

Riffer, Michelle Kori. "The Effects of the Insulin Signaling Pathway on TDP-43 Neurotoxicity in Amyotrophic Lateral Sclerosis." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/613411.

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The causes of Amyotrophic Lateral Sclerosis (ALS), a fatal neurodegenerative disease that results in skeletal muscle paralysis, remain unclear. However, a nuclear DNA and RNA binding protein called TAR DNA binding protein 43 (TDP-43) has emerged as a critical marker of ALS pathology. A previous drug screen conducted in the Zarnescu laboratory showed that anti-diabetic drugs can rescue lethality in a fruit fly model of ALS based on TDP-43. These results suggested that the insulin signaling pathway might be altered in motor neurons in a TDP-43 dependent manner. Therefore, we hypothesized that th
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14

Kaushansky, Laura J. "Investigating the Effects of Mutant FUS on Stress Response in Amyotrophic Lateral Sclerosis: A Thesis." eScholarship@UMMS, 2015. https://escholarship.umassmed.edu/gsbs_diss/792.

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During stress, eukaryotes regulate protein synthesis in part through formation of cytoplasmic, non-membrane-bound complexes called stress granules (SGs). SGs transiently store signaling proteins and stalled translational complexes in response to stress stimuli (e.g. oxidative insult, DNA damage, temperature shifts and ER dysfunction). The functional outcome of SGs is proper translational regulation and signaling, allowing cells to overcome stress. The fatal motor neuron disease Amyotrophic Lateral Sclerosis (ALS) develops in an age-related manner and is marked by progressive neuronal death, wi
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15

Kaushansky, Laura J. "Investigating the Effects of Mutant FUS on Stress Response in Amyotrophic Lateral Sclerosis: A Thesis." eScholarship@UMMS, 2008. http://escholarship.umassmed.edu/gsbs_diss/792.

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During stress, eukaryotes regulate protein synthesis in part through formation of cytoplasmic, non-membrane-bound complexes called stress granules (SGs). SGs transiently store signaling proteins and stalled translational complexes in response to stress stimuli (e.g. oxidative insult, DNA damage, temperature shifts and ER dysfunction). The functional outcome of SGs is proper translational regulation and signaling, allowing cells to overcome stress. The fatal motor neuron disease Amyotrophic Lateral Sclerosis (ALS) develops in an age-related manner and is marked by progressive neuronal death, wi
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16

Tarlarini, C. "MOLECULAR AND GENETIC CHARACTERIZATION OF ALS PATIENTS." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232574.

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Amyotrophic lateral sclerosis (ALS) is an adult‑onset, rapidly progressive and ultimately fatal neurodegenerative disorder characterised by degeneration of upper and lower motor neurons. This leads to weakness, muscular atrophy and spasticity, which relentlessly progress to complete paralysis with a low survival rate beyond 5 years from symptom onset. In 10% of cases the disease is considered to be genetically transmitted (FALS) while in the remaining cases it occurs sporadically in the population (SALS). To date cases of hereditary ALS have been attributed to mutations in more than 16 d
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17

Kim, Soo Hyun. "Gene therapy demonstrates that muscle is not a primary target for non-cell autonomous toxicity in familial ALS." Columbus, Ohio : Ohio State University, 2006. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1164829314.

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18

Mutihac, Ruxandra. "In vitro transgenic models to elucidate the molecular mechanisms of TDP-43 pathology in amyotrophic lateral sclerosis." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:1d8aa081-342f-4994-ac74-12c6ebdc30c6.

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Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disorder characterized by loss of upper and lower motor neurons. TDP-43 was identified as a major protein component of the characteristic neuronal inclusions and it has been detected in 90% of ALS cases. Furthermore, pathogenic mutations in the gene encoding TDP-43, TARDBP, were found in both sporadic and familial ALS cases. The aim of this study is to investigate the molecular mechanisms of cellular dysfunction and ultimately death caused by TDP-43 mutations in human cells using established cell lines and human mot
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19

Kent, Louisa. "The molecular pathogenesis of FUS mutations in amyotrophic lateral sclerosis using in vivo and in vitro models." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:f0968f9d-db01-4ace-bbd7-fc43319e19ea.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by degeneration of both upper and lower motor neurons. Most ALS occurs in a sporadic manner, though 5-10% is familial. Fused in sarcoma (FUS) is an RNA binding protein, and mutations in the FUS gene are responsible for approximately 4% of familial and < 1% of sporadic ALS cases. This work uses in vitro and in vivo models to examine the cellular effects of FUS mutations and the potential mechanisms of motor neuron toxicity. The first section describes a family with a severe clinical form of ALS due to a FUS truncat
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20

Wu, Chi-Hong. "Functional Characterization of Novel PFN1 Mutations Causative for Familial Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2015. https://escholarship.umassmed.edu/gsbs_diss/815.

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Amyotrophic lateral sclerosis (ALS) is a progressive adult neurodegenerative disease that causes death of both upper and lower motor neurons. Approximately 90 percent of ALS cases are sporadic (SALS), and 10 percent are inherited (FALS). Mutations in the PFN1 gene have been identified as causative for one percent of FALS. PFN1 is a small actin-binding protein that promotes actin polymerization, but how ALS-linked PFN1 mutations affect its cognate functions or acquire gain-of-function toxicity remains largely unknown. To elucidate the contribution of ALS-linked PFN1 mutations to neurodegenerati
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21

Wu, Chi-Hong. "Functional Characterization of Novel PFN1 Mutations Causative for Familial Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/815.

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Amyotrophic lateral sclerosis (ALS) is a progressive adult neurodegenerative disease that causes death of both upper and lower motor neurons. Approximately 90 percent of ALS cases are sporadic (SALS), and 10 percent are inherited (FALS). Mutations in the PFN1 gene have been identified as causative for one percent of FALS. PFN1 is a small actin-binding protein that promotes actin polymerization, but how ALS-linked PFN1 mutations affect its cognate functions or acquire gain-of-function toxicity remains largely unknown. To elucidate the contribution of ALS-linked PFN1 mutations to neurodegenerati
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22

Cacabelos, Barral Daniel. "Polyunsaturated fatty acids in amyotrophic lateral sclerosis: role of DHA, peroxidative modifications and sexual dimorphism." Doctoral thesis, Universitat de Lleida, 2014. http://hdl.handle.net/10803/285530.

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In the present work we focus into the potential relevance of PUFAs in some models and human samples from patients suffering amyotrophic lateral sclerosis (ALS). Due to its pathological implication, oxidative stress was our first goal. We started from simple oxidative methodology screening to search for an antioxidant substance (among 21 different candidates) available in a Mediterranean diet. The results demonstrated high heterogeneity in carbonyl (measured by DNP) accumulation, regarding the oxidative source, substrate suffering it and the antioxidant structure. Further, thanks to GC/MS
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23

Likhite, Shibi B. "Therapeutic suppression of mutant SOD1 by AAV9-mediated gene therapy approach in Amyotrophic Lateral Sclerosis." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417394084.

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24

Tian, Guilian. "The molecular mechanisms of the loss of glial glutamate transporter EAAT2 in neurodegenerative diseases." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187038549.

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25

Scorisa, Juliana Milani. "Caracterização celular e molecular da influência do astrócito na degeneração do neurônio motor no modelo in vitro da esclerose lateral amiotrófica utilizando camundongos trangênicos para SOD1 humana mutante." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-14082013-153550/.

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A Esclerose Lateral Amiotrófica (ELA) é uma doença neurodegenerativa de caráter progressivo caracterizada pela morte seletiva de neurônios motores que leva rapidamente os pacientes à morte. O camundongo transgênico que expressa a superóxido dismutase 1 humana mutante é o modelo experimental mais aceito para o estudo da doença. Os mecanismos que levam a perda neuronal ainda são pouco conhecidos e não existe tratamento eficaz para prolongar a vida do indivíduo. Estudos recentes indicam que as células gliais aceleram o processo neurodegenerativo, entretanto os mecanismos moleculares ainda não est
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26

Ko, Hae Kyung. "Exploring the Role of FUS Mutants from Stress Granule Incorporation to Nucleopathy in Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2015. https://escholarship.umassmed.edu/gsbs_diss/799.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by preferential motor neuron death in the brain and spinal cord. The rapid disease progression results in death due to respiratory failure, typically within 3-5 years after disease onset. While ~90% of cases occur sporadically, remaining 10% of ALS cases show familial inheritance, and the number of genes linked to ALS has increased dramatically over the past decade. FUS/TLS (Fused in Sarcoma/ Translocated to liposarcoma) is a nucleic acid binding protein that may regulate several cellular functions, in
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Ko, Hae Kyung. "Exploring the Role of FUS Mutants from Stress Granule Incorporation to Nucleopathy in Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2009. http://escholarship.umassmed.edu/gsbs_diss/799.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by preferential motor neuron death in the brain and spinal cord. The rapid disease progression results in death due to respiratory failure, typically within 3-5 years after disease onset. While ~90% of cases occur sporadically, remaining 10% of ALS cases show familial inheritance, and the number of genes linked to ALS has increased dramatically over the past decade. FUS/TLS (Fused in Sarcoma/ Translocated to liposarcoma) is a nucleic acid binding protein that may regulate several cellular functions, in
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28

Toro, Gabriela. "Gene Therapy for Amyotrophic Lateral Sclerosis: An AAV Mediated RNAi Approach for Autosomal Dominant C9ORF72 Associated ALS." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1020.

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Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disease that affects motor neurons causing progressive muscle weakness and respiratory failure. In 2011, the presence of a hexanucleotide repeat expansion within chromosome 9 open reading frame 72(C9ORF72) was identified in ALS patient samples, becoming the major known genetic cause for ALS and frontotemporal dementia (FTD). Carriers of this mutation present reduced levels of C9ORF72 mRNA, RNA foci produced by the aggregating expansion and toxic dipeptides generated through repeat-associated non-ATG translation. These findings
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29

BANERJEE, PRODYOT. "ANALYSING THE INVOLVEMENT OF A CU/ZN SUPEROXIDE DISMUTASE MUTATION IN FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS USING MOLECULAR DYNAMICS SIMULATION TECHNIQUE." Thesis, DELHI TECHNOLOGICAL UNIVERSITY, 2021. http://dspace.dtu.ac.in:8080/jspui/handle/repository/18608.

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Amyotrophic lateral sclerosis (ALS) is a type of neuro-degenerative disorder that causes muscle weakness, many type of disabilities and can eventually lead to death. Out of all the worldwide Amyotrophic lateral sclerosis cases, 5 to 10% are Familial Amyotrophic lateral sclerosis (FALS) cases. The involvement of superoxide dismutase (SOD1) in Familial Amyotrophic Lateral Sclerosis can be found in many published literatures. I tool a missense mutation of SOD1 gene which causes the substitution of Threonine (Thr) for Alanine (Ala) at the 5th position and analysed its involvement in FALS using mol
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30

Harandi, Vahid M. "A Muscle Perspective on the Pathophysiology of Amyotrophic Lateral Sclerosis : Differences between extraocular and limb muscles." Doctoral thesis, Umeå universitet, Anatomi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-120219.

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Background: Amyotrophic lateral sclerosis (ALS) is a late-onset progressive neurodegenerative disorder. ALS has been traditionally believed to be primarily a motor neuron disease. However, accumulating data indicate that loss of contact between the axons and the muscle fibres occurs early; long before the death of motor neurons and that muscle fibres may initiate motor neuron degeneration. Thus, the view of ALS is changing focus from motor neurons alone to also include the muscle fibres and the neuromuscular junctions (NMJs). While skeletal muscles are affected in ALS, oculomotor disturbances
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31

Pietri, David. "Structure and function of the C9ORF72-SMCR8-WDR41 complex and its implication for Amyotrophic Lateral Sclerosis (ALS)." Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ087.

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La sclérose latérale amyotrophique (SLA ou maladie de Charcot) est la troisième maladie neurodégénérative la plus répandue. La principale cause génétique de la SLA est une expansion de répétitions GGGGCC dans le gène C9ORF72, dont la protéine forme un complexe avec les protéines SMCR8 et WDR41. Afin de mieux comprendre ses fonctions moléculaires, résoudre sa structure était un objectif principal de ma thèse. En parallèle, nous avons découvert que C9ORF72 régule un mécanisme nouvellement décrit de biogenèse de nouveaux lysosomes nommé reformation autophagique des lysosomes (ALR). Ce processus a
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32

Ward, Catherine L. "The Cellular Consequences of FUS/TLS Depletion: A Loss of Function Model for Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/738.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of motor neurons, generally leading to paralysis and death within 3-5 years of onset. Over 50 different mutations in the gene encoding FUS/TLS (or FUS) will result in ALS, accounting for ~4% of all inherited cases. FUS is a multifunctional protein with important functions in DNA/RNA processing and stress response. How these mutations affect the structure or function of FUS protein and ultimately cause ALS is not known. The fact that mutations cause the protein to mislocalize from the nucleus to
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Ward, Catherine L. "The Cellular Consequences of FUS/TLS Depletion: A Loss of Function Model for Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2007. http://escholarship.umassmed.edu/gsbs_diss/738.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of motor neurons, generally leading to paralysis and death within 3-5 years of onset. Over 50 different mutations in the gene encoding FUS/TLS (or FUS) will result in ALS, accounting for ~4% of all inherited cases. FUS is a multifunctional protein with important functions in DNA/RNA processing and stress response. How these mutations affect the structure or function of FUS protein and ultimately cause ALS is not known. The fact that mutations cause the protein to mislocalize from the nucleus to
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34

Murtha, Matthew J. III. "Transcriptional Programming of Spinal Motor Neurons from Stem Cells." The Ohio State University, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=osu1261416295.

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Grassmann, Greta. "Aggregation of the C-terminal fragment of the TAR DNA-binding Protein 43 (TDP-43) in relation to the Amyotrophic lateral sclerosis (ALS)." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2021. http://amslaurea.unibo.it/23921/.

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Many neurodegenerative diseases -including the Amyotrophic Lateral Sclerosis (ALS) - are associated with the presence of protein aggregates. Over 97% of ALS cases feature pathological inclusions mainly composed by the protein TDP-43 and affect the cortical and spinal neurons. This thesis studies the aggregation process of the two types of TDP-43 C-terminal fragments (CTFs) - corresponding to different cleavages of the full protein- that can be found in the former. This is interesting not only for the possible implications on the ALS disease, but also because TDP-43 fragments are a useful syste
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Hayden, Elliott. "Rescue of ALS Protein FUS Toxicity by TAF." Wright State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=wright1559680404963737.

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Ramírez, Núñez Omar. "Implicación de nucleoporinas y su relación con alteraciones de proteóstasis de TDP-43 secundarias a estrés celular en la fisiopatología de la ELA." Doctoral thesis, Universitat de Lleida, 2017. http://hdl.handle.net/10803/671193.

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L’esclerosis lateral amiotròfica (ELA) és una malaltia neurodegenerativa caracteritzada per canvis citopatològics en les motoneurones inferiors dels tronc cerebral i de la medul•la espinal, així com en les motoneurones superiors de l’escorça motora. Els pacients que pateixen aquesta patologia experimenten signes i símptomes d’atròfia muscular progressiva secundaria amb debilitat, augment de la fatiga, disfàgia que s’acompanya d’insuficiència respiratòria i la mort. L’ELA es classifica en dos amplies categories cínicament molt similars, l’ELA familiar (ELAf) que s’associa a mutacions en un conj
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38

Jorge, Frederico Mennucci de Haidar. "Correlação clínico-molecular na esclerose lateral amiotrófica fundamentada pelos achados da expressão gênica no nervo extensor curto do hálux." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-02082018-113658/.

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A Esclerose Lateral Amiotrófica (ELA) é uma doença neurodegenerativa progressiva e incurável, caracterizada pela perda seletiva dos neurônios motores (NM) superiores e inferiores com uma sobrevida média de 3 anos. As manifestações clínicas dependem da topografia e comprometimento dos NM. De causa desconhecida, descrições apontam para a participação das células gliais (astrócitos, microglia e célula de Schwann) na toxicidade neuronal. A retração precoce do axônio no músculo esquelético sugere a participação da célula de Schwann na morte neuronal retrógrada (dying back). Este estudo descreveu as
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Tischbein, Maeve. "FUS and Excitotoxicity Cross Paths in ALS: New Insights into Cellular Stress and Disease." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/990.

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Amyotrophic lateral sclerosis (ALS) is an incurable and fatal neurodegenerative disease characterized by motor neuron loss. Although pathological mutations exist in >15 genes, the mechanism(s) underlying ALS are unknown. FUS is one such gene and encodes the nuclear RNA-binding protein (RBP), fused in sarcoma (FUS), which actively shuttles between the nucleus and cytoplasm. Intriguingly, nearly half of the ALS mutations identified in FUS cause this protein to mislocalize, suggesting that FUS localization is relevant to disease. Here, we found that excitotoxicity, a neuronal stress caused by abe
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40

PLETTO, Daniela Rita. "CHARACTERIZATION OF MOLECULAR ISOFORMS AND ROLE OF THE SURVIVAL MOTOR NEURON (SMN) IN MOTOR NEURONS DISEASES." Doctoral thesis, Università degli Studi di Palermo, 2014. http://hdl.handle.net/10447/91238.

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La sclerosi Laterale Amiotrofica (SLA) e l'Atrofia Muscolare Spinale (SMA) sono malattie neurodegenerative caratterizzate dalla perdita progressiva dei motoneuroni. La SMA è generalmente causata da delezione in omozigosi o mutazione del gene SMN, che codifica per una proteina ubiquitaria e multifunzionale, altamente espressa nel midollo spinale. La SLA è una malattia che può essere familiare o sporadica.Il 20% dei casi familiari è causato da una mutazione dominante nel gene SOD1. Inoltre ci sono altri geni coinvolti in questa malattia, tra cui FUS e TDP43. Lo scopo principale della tesi è
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41

Stoica, Lorelei I. "Gene Therapy for Amyotrophic Lateral Sclerosis: An AAV Delivered Artifical MicroRNA Against Human SOD1 Increases Survival and Delays Disease Progression of the SOD1G93A Mouse Model: A Dissertation." eScholarship@UMMS, 2015. http://escholarship.umassmed.edu/gsbs_diss/813.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle weakness, atrophy, paralysis and death within five years of diagnosis. About ten percent of cases are inherited, of which twenty percent are due to mutations in the superoxide dismutase 1 (SOD1) gene. Since the only FDA approved ALS drug prolongs survival by just a few months, new therapies for this disease are needed. Experiments in transgenic ALS mouse models have shown that decreasing levels of mutant SOD1 protein alters and in some cases entirely
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42

Liu, Kevin Xinye. "Molecular mechanisms of OXR1 function." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:fcd52a79-a15e-4c3c-8729-6fabbc3543e3.

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By 2040, the World Health Organization expects neurodegenerative diseases, such as Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), and Parkinson’s disease, to surpass cancer as the second most common cause of death worldwide. Currently, only treatments for symptoms of these diseases are available. Thus, research is critical to alleviate this public health burden by elucidating the pathogenic processes and developing novel therapies. While exact mechanisms by which these heterogeneous neuropathological conditions become manifest in patients remain unclear, growing evidence suggests th
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43

Kamelgarn, Marisa Elizabeth. "MUTATIONS OF FUS CAUSE AGGREGATION OF RNA BINDING PROTEINS, DISRUPTIONS IN PROTEIN SYNTHESIS, AND DYSREGULATION OF NONSENSE MEDIATED DECAY." UKnowledge, 2019. https://uknowledge.uky.edu/toxicology_etds/27.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neuron death and subsequent muscle atrophy. Approximately 15% of ALS cases are inheritable, and mutations in the Fused in Sarcoma (FUS) gene contribute to approximately 5% of these cases, as well as about 2% of sporadic cases. FUS performs a diverse set of cellular functions, including being a major regulator of RNA metabolism. FUS undergoes liquid- liquid phase transition in vitro, allowing for its participation in stress granules and RNA transport granules. Phase transition also contributes to the
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44

Munoz-Ruiz, Raphaël. "Novel aspects of TDP-43's interaction with ALS-related autophagy genes." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS268.

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La Sclérose Latérale Amyotrophique (SLA) est une maladie dégénérative des neurones moteurs. Sa signature est la présence d’inclusions cytoplasmiques ubiquitinées (synonyme de protéostasie défaillante) majoritairement positives pour TDP-43, une protéine de liaison aux ARNs. Les altérations de l’autophagie et du métabolisme des ARNs sont particulièrement étudiées dans la SLA. Cette thèse explore le rôle de TDP-43 dans la régulation de l’autophagie et particulièrement sur les récepteurs de l’autophagie p62 et OPTN ainsi que leur kinase activatrice TBK1. Chez l’embryon de poisson zèbre, la sous-ex
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45

Cheng, Wei. "From Neurodegeneration to Infertility and Back - Exploring Functions of Two Genes: ARMC4 and TARDBP: A Dissertation." eScholarship@UMMS, 2014. http://escholarship.umassmed.edu/gsbs_diss/695.

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Amyotrophic Lateral Sclerosis (ALS) is an adult-onset progressive neurodegenerative disease that causes degeneration in both upper and lower motor neurons. ALS progresses relentlessly after the onset of the disease, with most patients die within 3-5 years of diagnosis, largely due to respiratory failure. Since SOD1 became the first gene whose mutations were associated with ALS in 1993, more than 17 ALS causative genes have been identified. Among them, TAR DNA-binding protein (TARDBP) lies in the central of ALS pathology mechanism study, because TDP43 proteinopathy is observed not only in famil
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Praline, Julien. "Génétique des formes sporadiques de sclérose latérale amyotrophique." Thesis, Tours, 2009. http://www.theses.fr/2009TOUR3139/document.

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La sclérose latérale amyotrophique (SLA) est une maladie neurodégénérative d’évolution toujours fatale. Dans les formes sporadiques (SLAS), l’étiologie demeure inconnue et l’hypothèse d’une participation génétique dans le cadre d’un modèle de maladie complexe est envisagée. Notre travail porte sur deux gènes de susceptibilité dans la SLAS : le gène de l’Apolipoprotéine E (APOE) et le gène impliqué dans l’hémochromatose familiale de type 1 (HFE). Notre première étude confirme sur une population de 1482 patients atteints de SLA sporadique le lien entre allèle ε4 et la forme bulbaire de la maladi
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47

Boopathy, Sivakumar. "Investigating Structural and Functional Defects in ALS-causing Profilin 1 Variants." eScholarship@UMMS, 2009. http://escholarship.umassmed.edu/gsbs_diss/923.

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Mutations in profilin 1 (PFN1) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that targets motor neurons. PFN1 is a 15 kDa protein that is best known for its role in actin dynamics. However, little is known about the pathological mechanisms of PFN1 in ALS. In this dissertation, it is demonstrated that certain familial ALS-linked mutations severely destabilize the native conformation of PFN1 in vitro and cause accelerated turnover of the PFN1 protein in neuronal cells. This mutation-induced destabilization can account for the high propensity of ALS-linked variants
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48

Boopathy, Sivakumar. "Investigating Structural and Functional Defects in ALS-causing Profilin 1 Variants." eScholarship@UMMS, 2017. https://escholarship.umassmed.edu/gsbs_diss/923.

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Mutations in profilin 1 (PFN1) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that targets motor neurons. PFN1 is a 15 kDa protein that is best known for its role in actin dynamics. However, little is known about the pathological mechanisms of PFN1 in ALS. In this dissertation, it is demonstrated that certain familial ALS-linked mutations severely destabilize the native conformation of PFN1 in vitro and cause accelerated turnover of the PFN1 protein in neuronal cells. This mutation-induced destabilization can account for the high propensity of ALS-linked variants
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49

Kennedy, Zachary C. "Optimizing CRISPR/Cas9 for Gene Silencing of SOD1 in Mouse Models of ALS." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1047.

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Mutations in the SOD1 gene are the best characterized genetic cause of amyotrophic lateral sclerosis (ALS) and account for ~20% of inherited cases and 1-3% of sporadic cases. The gene-editing tool Cas9 can silence mutant genes that cause disease, but effective delivery of CRISPR-Cas9 to the central nervous system (CNS) remains challenging. Here, I developed strategies using canonical Streptococcus pyogenes Cas9 to silence SOD1. In the first strategy, I demonstrate effectiveness of systemic delivery of guide RNA targeting SOD1 to the CNS in a transgenic mouse model expressing human mutant SOD1
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50

Lind, Anne-Li. "Biomarkers for Better Understanding of the Pathophysiology and Treatment of Chronic Pain : Investigations of Human Biofluids." Doctoral thesis, Uppsala universitet, Anestesiologi och intensivvård, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-326180.

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Chronic pain affects 20 % of the global population, causes suffering, is difficult to treat, and constitutes a large economic burden for society. So far, the characterization of molecular mechanisms of chronic pain-like behaviors in animal models has not translated into effective treatments. In this thesis, consisting of five studies, pain patient biofluids were analyzed with modern proteomic methods to identify biomarker candidates that can be used to improve our understanding of the pathophysiology chronic pain and lead to more effective treatments. Paper I is a proof of concept study, where
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