The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
about
Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formationLoss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal traffickingA Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseAls2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalitiesAmyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor traffickingLocalized regulation of axonal RanGTPase controls retrograde injury signaling in peripheral nerve.Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.Rac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.Rab proteins and the compartmentalization of the endosomal systemThe nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.Alsin and the molecular pathways of amyotrophic lateral sclerosisALS2/alsin knockout mice and motor neuron diseases.Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohortAlsin related disorders: literature review and case study with novel mutations.Endocytic membrane trafficking and neurodegenerative disease.The concept and diagnostic criteria of primary lateral sclerosis.Endothelial nitric oxide synthase overexpression by neuronal cells in neurodegeneration: a link between inflammation and neuroprotection.Hereditary primary lateral sclerosis with cone dysfunction.Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria.A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.The Rab5 Activator ALS2/alsin Acts as a Novel Rac1 Effector through Rac1-activated EndocytosisA novel compound heterozygousALS2mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis
P2860
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P2860
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The first ALS2 missense mutati ...... s of alsin biological function
@ast
The first ALS2 missense mutati ...... s of alsin biological function
@en
The first ALS2 missense mutati ...... s of alsin biological function
@en-gb
The first ALS2 missense mutati ...... s of alsin biological function
@nl
type
label
The first ALS2 missense mutati ...... s of alsin biological function
@ast
The first ALS2 missense mutati ...... s of alsin biological function
@en
The first ALS2 missense mutati ...... s of alsin biological function
@en-gb
The first ALS2 missense mutati ...... s of alsin biological function
@nl
prefLabel
The first ALS2 missense mutati ...... s of alsin biological function
@ast
The first ALS2 missense mutati ...... s of alsin biological function
@en
The first ALS2 missense mutati ...... s of alsin biological function
@en-gb
The first ALS2 missense mutati ...... s of alsin biological function
@nl
P2093
P50
P3181
P356
P1433
P1476
The first ALS2 missense mutati ...... s of alsin biological function
@en
P2093
Chris Panzeri
Elizabeth L Tudor
Gianni De Polo
P304
P3181
P356
10.1093/BRAIN/AWL104
P407
P50
P577
2006-07-01T00:00:00Z