UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyPurkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.Systematic review of autosomal recessive ataxias and proposal for a classification.Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.Postnatal calpain inhibition elicits cerebellar cell death and motor dysfunction.Structural basis for Ufm1 recognition by UfSP.A novel approach to assess the ubiquitin-fold modifier 1-system in cells.Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
P2860
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P248
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P2860
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
description
2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique PLoS ONE
@fr
artículu científicu espublizáu en 2016
@ast
im Januar 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/01/01)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/01/01)
@nl
наукова стаття, опублікована в січні 2016
@uk
name
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@ast
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@en
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@nl
type
label
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@ast
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@en
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@nl
prefLabel
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@ast
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@en
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@nl
P2093
P2860
P921
P1433
P1476
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
@en
P2093
Beisha Tang
Gehan Zhang
Guanghui Wang
Hong Jiang
Jifeng Guo
Junling Wang
Ranhui Duan
P2860
P304
P356
10.1371/JOURNAL.PONE.0149039
P407
P577
2016-01-01T00:00:00Z