Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
about
Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117.Cellular turnover of the polyglutamine disease protein ataxin-3 is regulated by its catalytic activity.Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
P2860
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Characterisation of the unstab ...... nt with Machado-Joseph disease
@ast
Characterisation of the unstab ...... nt with Machado-Joseph disease
@en
type
label
Characterisation of the unstab ...... nt with Machado-Joseph disease
@ast
Characterisation of the unstab ...... nt with Machado-Joseph disease
@en
prefLabel
Characterisation of the unstab ...... nt with Machado-Joseph disease
@ast
Characterisation of the unstab ...... nt with Machado-Joseph disease
@en
P2093
P2860
P50
P356
P1476
Characterisation of the unstab ...... nt with Machado-Joseph disease
@en
P2093
P2860
P304
P356
10.1136/JMG.32.10.827
P407
P577
1995-10-01T00:00:00Z