Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene - Wikidata - awgldk - TriplyDB

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

http://www.wikidata.org/entity/Q24612029

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Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance Homo-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 trafficking A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease Genotype-phenotype correlations of amyotrophic lateral sclerosis Rho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and disease State of play in amyotrophic lateral sclerosis genetics Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking Vps9p CUE domain ubiquitin binding is required for efficient endocytic protein traffic.A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During Disease Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Complex genetics of amyotrophic lateral sclerosis.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.Therapeutic developments in the treatment of amyotrophic lateral sclerosis.Molecular and cellular pathways of neurodegeneration in motor neurone disease The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms Alsin and the molecular pathways of amyotrophic lateral sclerosis The genetics of hereditary spastic paraplegia and implications for drug therapy.ALS2/alsin knockout mice and motor neuron diseases.A retrograde neuronal survival response: target-derived neurotrophins regulate MEF2D and bcl-w.RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.The genetics and neuropathology of amyotrophic lateral sclerosis.Alsin related disorders: literature review and case study with novel mutations.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

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Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

http://www.wikidata.org/entity/Q24612029

description

2002 nî lūn-bûn

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2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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name

Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Infantile-onset ascending here ...... th mutations in the alsin gene

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American Journal of Human Genetics

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Infantile-onset ascending here ...... th mutations in the alsin gene

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Filippo Maria Santorelli

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Gaetan Lesca

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Matteo di Capua

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Odile Boespflug-Tanguy

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P2860

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34

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518-527

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10.1086/342359

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3

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71

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Eléonore Eymard-Pierre

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2002-07-26T00:00:00Z

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11236350

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12145748

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infantile-onset ascending hereditary spastic paralysis

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379189

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