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Article

TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.

Nature communications - 26 Mar 2021

Baek Minwoo, Choe Yun-Jeong, Bannwarth Sylvie, Kim JiHye, Maitra Swati, Dorn Gerald W, Taylor J Paul, Paquis-Flucklinger Veronique, Kim Nam Chul

Abstract excerpt

Mutations in coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) can cause amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). However, the underlying mechanisms are unclear. Here, we generate CHCH10S59L-mutant Drosophila melanogaster and HeLa cell lines to model CHCHD10-associated ALS-FTD. The CHCHD10S59L mutation results in cell toxicity in several tissues and mitochondrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33772006
DOI: 10.1038/s41467-021-22145-9
PMCID: PMC7997989

Genes

PINK1
CHCHD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.PMID 33772006Read ↗

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CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.Semantic proximity Read ↗

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SLP2/prohibitins aggregates and instability of the PHB complex are key elements in <i> CHCHD10 <sup>S59L</sup> </i> -related diseaseSemantic proximity Read ↗

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