(Q51954003)

18 April 2018

title

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. (English)

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18 April 2018

0 references

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6

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18 April 2018

Guy A. Rouleau

12

Guy A Rouleau

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18 April 2018

11

Jean-Pierre Julien

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18 April 2018

Pierre Drapeau

10

Pierre Drapeau

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18 April 2018

Patrick A Dion

8

Patrick Dion

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18 April 2018

Stéphanie Millecamps

5

Stéphanie Millecamps

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18 April 2018

Edor Kabashi

3

Edor Kabashi

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18 April 2018

Jonathan McDearmid

4

Jonathan McDearmid

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18 April 2018

author name string

Francois Gros-Louis

1

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18 April 2018

Jasna Kriz

2

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18 April 2018

Li Lin

7

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18 April 2018

Qinzhang Zhu

9

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18 April 2018

publication date

16 June 2008

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18 April 2018

published in

Human Molecular Genetics

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18 April 2018

volume

17

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18 April 2018

issue

17

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18 April 2018

page(s)

2691-2702

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18 April 2018

Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management.

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

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

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

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Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

21 January 2018

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The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

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Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress

21 January 2018

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Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities

21 January 2018

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Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

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Progressive spinal axonal degeneration and slowness in ALS2-deficient mice

21 January 2018

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Hu neuronal proteins are expressed in proliferating neurogenic cells.

21 January 2018

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21 January 2018

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Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

21 January 2018

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ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

21 January 2018

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Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

21 January 2018

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ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth

21 January 2018

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Alsin is partially associated with centrosome in human cells

21 January 2018

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Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

21 January 2018

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Derivation of completely cell culture-derived mice from early-passage embryonic stem cells

21 January 2018

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A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

21 January 2018

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Effective targeted gene 'knockdown' in zebrafish

21 January 2018

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AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

21 January 2018

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Distal axonopathy in an alsin-deficient mouse model

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDN171

1 reference

18 April 2018

PubMed ID

18558633

1 reference

18 April 2018