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Article

TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.

Aging cell - 1 Apr 2017

Husain Nilofer, Yuan Qiang, Yen Yi-Chun, Pletnikova Olga, Sally Dong Qianying, Worley Paul, Bichler Zoë, Shawn Je H

Abstract excerpt

Multiple loss-of-function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates the ubiquitination of its target for degradation by the ubiquitin-proteasome system (UPS). Here, we demonstrate that two of these...

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Identifiers

PMID: 27995769
DOI: 10.1111/acel.12551
PMCID: PMC5334534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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