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Article

Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants.

Human mutation - 1 Aug 2017

Tio Murni, Wen Rujing, Lim Yih Lin, Zukifli Zul Haikhel Bin, Xie Shaoping, Ho Patrick, Zhou Zhidong, Koh Tong-Wey, Zhao Yi, Tan Eng-King

Abstract excerpt

Mutations and polymorphic risk variant of coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) have been associated with late-onset Parkinson disease. In vivo pathological evidence of CHCHD2 mutations is currently lacking. Utilizing transgenic Drosophila model, we examined the relative pathophysiologic effect of the pathogenic (c.182C>T, p.Thr61Ile and c.434G>A, p.Arg145Gln) and the risk (c.5C>T,...

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Identifiers

PMID: 28432706
DOI: 10.1002/humu.23234

Genes

CHCHD2

Variants

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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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