Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. (Q51954003)

18 April 2018

title

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

1 reference

18 April 2018

0 references

1 reference

6

1 reference

18 April 2018

Guy A. Rouleau

12

Guy A Rouleau

1 reference

18 April 2018

11

Jean-Pierre Julien

1 reference

18 April 2018

Pierre Drapeau

10

Pierre Drapeau

1 reference

18 April 2018

Patrick A Dion

8

Patrick Dion

1 reference

18 April 2018

Stéphanie Millecamps

5

Stéphanie Millecamps

1 reference

18 April 2018

Edor Kabashi

3

Edor Kabashi

1 reference

18 April 2018

Jonathan McDearmid

4

Jonathan McDearmid

1 reference

18 April 2018

author name string

Francois Gros-Louis

1

1 reference

18 April 2018

Jasna Kriz

2

1 reference

18 April 2018

Li Lin

7

1 reference

18 April 2018

Qinzhang Zhu

9

1 reference

18 April 2018

publication date

16 June 2008

1 reference

18 April 2018

published in

Human Molecular Genetics

1 reference

18 April 2018

volume

17

1 reference

18 April 2018

page(s)

2691-2702

1 reference

18 April 2018

issue

17

1 reference

18 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Genetics of familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Progressive spinal axonal degeneration and slowness in ALS2-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Hu neuronal proteins are expressed in proliferating neurogenic cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Variation in alternative splicing across human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Alsin is partially associated with centrosome in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Effective targeted gene 'knockdown' in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

Distal axonopathy in an alsin-deficient mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN171

21 January 2018

Identifiers

DOI

10.1093/HMG/DDN171

1 reference

18 April 2018

PubMed ID

18558633

1 reference

18 April 2018