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Article

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Human molecular genetics - 15 Feb 2014

Shi Chang-He, Schisler Jonathan C, Rubel Carrie E, Tan Song, Song Bo, McDonough Holly, Xu Lei, Portbury Andrea L, Mao Cheng-Yuan, True Cadence, Wang Rui-Hao, Wang Qing-Zhi, Sun Shi-Lei, Seminara Stephanie B, Patterson Cam, Xu Yu-Ming

Abstract excerpt

Gordon Holmes syndrome (GHS) is a rare Mendelian neurodegenerative disorder characterized by ataxia and hypogonadism. Recently, it was suggested that disordered ubiquitination underlies GHS though the discovery of exome mutations in the E3 ligase RNF216 and deubiquitinase OTUD4. We performed exome sequencing in a family with two of three siblings afflicted with ataxia and hypogonadism and identified a homozygous...

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Source

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Identifiers

PMID: 24113144
DOI: 10.1093/hmg/ddt497
PMCID: PMC3900109

Genes

OTUD4
RNF216
STUB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.PMID 24113144Read ↗

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.Semantic proximity Read ↗

The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.Semantic proximity Read ↗

Domain-specific decoupling of co-chaperone and ligase functions in <i>STUB1</i> underlies biochemical and clinical heterogeneity in SCA48Semantic proximity Read ↗

Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of cerebellar CHIPopathySemantic proximity Read ↗

Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.Semantic proximity Read ↗

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.Semantic proximity Read ↗

Clinical and Functional Characterization of a Novel STUB1 Mutation in a Chinese Spinocerebellar Ataxia 48 PedigreeSemantic proximity Read ↗

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.Semantic proximity Read ↗

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.Semantic proximity Read ↗

CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo.Semantic proximity Read ↗

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Changes in protein function underlies the disease spectrum in patients with CHIP mutationsSemantic proximity Read ↗

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