Related references
Note: Only part of the references are listed.Distal axonopathy in an alsin-deficient mouse model
Han-Xiang Deng et al.
HUMAN MOLECULAR GENETICS (2007)
Genetics of familial and sporadic amyotrophic lateral sclerosis
Francois Gros-Louis et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Progressive spinal axonal degeneration and slowness in ALS2-deficient mice
Koji Yamanaka et al.
ANNALS OF NEUROLOGY (2006)
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
Chris Panzeri et al.
BRAIN (2006)
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities
R. S. Devon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
Eleonore Eymard-Pierre et al.
ANNALS OF NEUROLOGY (2006)
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
S Hadano et al.
HUMAN MOLECULAR GENETICS (2006)
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
JA Kress et al.
ANNALS OF NEUROLOGY (2005)
ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth
EL Tudor et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress
HB Cai et al.
JOURNAL OF NEUROSCIENCE (2005)
Alsin is partially associated with centrosome in human cells
S Millecamps et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2005)
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
JD Topp et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
F Gros-Louis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Variation in alternative splicing across human tissues
G Yeo et al.
GENOME BIOLOGY (2004)
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
JM Johnson et al.
SCIENCE (2003)
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
RS Devon et al.
CLINICAL GENETICS (2003)
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
A Otomo et al.
HUMAN MOLECULAR GENETICS (2003)
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families
G Lesca et al.
NEUROLOGY (2003)
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
F Gros-Louis et al.
ANNALS OF NEUROLOGY (2003)
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
E Eymard-Pierre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Y Yang et al.
NATURE GENETICS (2001)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
S Hadano et al.
NATURE GENETICS (2001)
Effective targeted gene 'knockdown' in zebrafish
A Nasevicius et al.
NATURE GENETICS (2000)