Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia
about
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsA Decade of Boon or Burden: What Has the CHIP Ever Done for Cellular Protein Quality Control Mechanism Implicated in Neurodegeneration and Aging?UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar AtaxiaGenetic diagnosis of two dopa-responsive dystonia families by exome sequencingIn vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.Minireview: hey U(PS): metabolic and proteolytic homeostasis linked via AMPK and the ubiquitin proteasome system.STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasSTUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.Systematic review of autosomal recessive ataxias and proposal for a classification.The Ubiquitination, Disaggregation and Proteasomal Degradation Machineries in Polyglutamine DiseaseGarbage on, garbage off: new insights into plasma membrane protein quality control.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Regulation of autophagic flux by CHIP.Amyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and NeurodegenerationMost mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.A recessive ataxia diagnosis algorithm for the next generation sequencing era.A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Counterregulation of cAMP-directed kinase activities controls ciliogenesis.Roles of Post-translational Modifications in Spinocerebellar AtaxiasDisrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16
P2860
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P2860
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@ast
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@en
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@nl
type
label
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@ast
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@en
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@nl
prefLabel
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@ast
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@en
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@nl
P2093
P2860
P3181
P1433
P1476
Identification of CHIP as a no ...... al recessive cerebellar ataxia
@en
P2093
Beisha Tang
Fufeng Zhang
Guanghui Wang
Hong Jiang
Jianguo Zhang
Jifeng Guo
Jingjing Xiao
Junling Wang
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0081884
P407
P577
2013-01-01T00:00:00Z