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Article

Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.

Journal of medical genetics - 1 Sept 2021

Song Pingping, Guan Yuqing, Chen Xia, Wu Chaochen, Qiao An, Jiang Haishan, Li Qi, Huang Yingwei, Huang Wei, Xu Miaojing, Niemtiah Ouattara, Yuan Chao, Li Wei, Zhou Liang, Xiao Zhongju, Pan Suyue, Hu Yafang

Abstract excerpt

BACKGROUND: Deafness-dystonia-optic neuronopathy (DDON) syndrome is a progressive X-linked recessive disorder characterised by deafness, dystonia, ataxia and reduced visual acuity. The causative gene deafness/dystonia protein 1 (DDP1)/translocase of the inner membrane 8A (TIMM8A) encodes a mitochondrial intermembrane space chaperon. The molecular mechanism of DDON remains unclear, and detailed information on...

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Identifiers

PMID: 32820032
DOI: 10.1136/jmedgenet-2020-106925

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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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