Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
about
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohortsWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesA Decade of Boon or Burden: What Has the CHIP Ever Done for Cellular Protein Quality Control Mechanism Implicated in Neurodegeneration and Aging?Insights from exome sequencing for endocrine disordersIn vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.Carboxyl terminus of Hsp70-interacting protein regulation of osteoclast formation in mice through promotion of tumor necrosis factor receptor-associated factor 6 protein degradation.Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.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.Genes and genetic testing in hereditary ataxias.Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.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.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues.Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Regulation of autophagic flux by CHIP.Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.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 novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.Counterregulation of cAMP-directed kinase activities controls ciliogenesis.Anisomycin prevents OGD-induced necroptosis by regulating the E3 ligase CHIP.CHIP regulates bone mass by targeting multiple TRAF family members in bone marrow stromal cells.Disrupted 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
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին 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
@wuu
name
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@ast
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@en
type
label
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@ast
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@en
prefLabel
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@ast
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@en
P2093
P2860
P356
P1476
Ataxia and hypogonadism caused ...... vity of the U box protein CHIP
@en
P2093
Andrea L Portbury
Cadence True
Cam Patterson
Carrie E Rubel
Chang-He Shi
Cheng-Yuan Mao
Holly McDonough
Qing-Zhi Wang
P2860
P304
P356
10.1093/HMG/DDT497
P577
2013-10-09T00:00:00Z