The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
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CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosisSporadic ALS is not associated with VAPB gene mutations in Southern ItalyAnalysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDHuman CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesThe genetic epidemiology of neurodegenerative disease.Spongiform neurodegeneration-associated E3 ligase Mahogunin ubiquitylates TSG101 and regulates endosomal traffickingSlowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome traffickingA mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome traffickingDefective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formationAn autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domDNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaInfantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneUnstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron diseaseInsulin-like growth factor-I for the treatment of amyotrophic lateral sclerosisMissense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron diseaseMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HTherapeutic vaccine for acute and chronic motor neuron diseases: implications for amyotrophic lateral sclerosis.VPS54 and the wobbler mouseUltrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesisAutophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALSMolecular motor proteins and amyotrophic lateral sclerosisRho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and diseaseSumoylation of critical proteins in amyotrophic lateral sclerosis: emerging pathways of pathogenesisRedox regulation in amyotrophic lateral sclerosisLoss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal traffickingThe GARP complex is required for cellular sphingolipid homeostasis.Vps9p CUE domain ubiquitin binding is required for efficient endocytic protein traffic.Actin-Dependent Alterations of Dendritic Spine Morphology in ShankopathiesMultiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer Components and R-SNARE VAMP7 Meet on VARPRole of NMDA Receptor-Mediated Glutamatergic Signaling in Chronic and Acute NeuropathologiesAlsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutantsThe complex molecular biology of amyotrophic lateral sclerosis (ALS)Excitotoxicity and ALS: what is unique about the AMPA receptors expressed on spinal motor neurons?Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligaseLack of effect of methylene blue in the SOD1 G93A mouse model of amyotrophic lateral sclerosisMice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
P2860
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P2860
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@ast
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@en
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@nl
type
label
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@ast
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@en
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@nl
prefLabel
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@ast
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@en
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@nl
P2093
P3181
P356
P1433
P1476
The gene encoding alsin, a pro ...... amyotrophic lateral sclerosis
@en
P2093
Ben-Hamida M
P2888
P304
P3181
P356
10.1038/NG1001-160
P407
P577
2001-10-01T00:00:00Z