STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Item
http://www.wikidata.org/entity/Q34274557
A Decade of Boon or Burden: What Has the CHIP Ever Done for Cellular Protein Quality Control Mechanism Implicated in Neurodegeneration and Aging?In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.The Ubiquitin Ligase CHIP Integrates Proteostasis and Aging by Regulation of Insulin Receptor TurnoverSTUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues.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 NeurodegenerationPost-translationally modified muscle-specific ubiquitin ligases as circulating biomarkers in experimental cancer cachexia.Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.CHIP Regulates Aquaporin-2 Quality Control and Body Water Homeostasis.A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16
P2860

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Item
http://www.wikidata.org/entity/Q34274557
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@ast
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@en
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@nl
type
label
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@ast
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@en
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@nl
prefLabel
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@ast
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@en
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
STUB1 mutations in autosomal r ...... ecific clinical heterogeneity.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932