UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

about

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Item

http://www.wikidata.org/entity/Q58698132

description

im Oktober 2018 veröffentlichter wissenschaftlicher Artikel

@de

scientific article published on 01 October 2018

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в жовтні 2018

@uk

name

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@en

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@nl

type

Item

label

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@en

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@nl

prefLabel

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@en

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@nl

P1476

UBA1/GARS-dependent pathways d ...... cts in spinal muscular atrophy

@en

P2093

Brunhilde Wirth

http://www.w3.org/2001/XMLSchema#string

Dinja van der Hoorn

http://www.w3.org/2001/XMLSchema#string

Douglas J Lamont

http://www.w3.org/2001/XMLSchema#string

Giampietro Schiavo

http://www.w3.org/2001/XMLSchema#string

Hannah K Shorrock

http://www.w3.org/2001/XMLSchema#string

Maica Llavero Hurtado

http://www.w3.org/2001/XMLSchema#string

Penelope J Boyd

http://www.w3.org/2001/XMLSchema#string

P2860

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

Characterization of NEDD8, a developmentally down-regulated ubiquitin-like protein

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

GARS axonopathy: not every neuron's cup of tRNA

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy

An efficient algorithm for large-scale detection of protein families

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

P304

2878-2894

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/BRAIN/AWY237

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

141

http://www.w3.org/2001/XMLSchema#string

P50

Thomas H. Gillingwater

James N. Sleigh

Thomas M Wishart

Ewout J N Groen

P577

2018-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

30239612

http://www.w3.org/2001/XMLSchema#string

P921

spinal muscular atrophy

P932

6158753

http://www.w3.org/2001/XMLSchema#string