Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment

Y Xiao, J Zhang, X Shu, L Bai, W Xu… - Human molecular …, 2020 - academic.oup.com
… 1A), suggesting that muscle CHCHD10 might play a predominant role at the peripheral …
CHCHD10 expression in the skeletal muscles of different aged mice and found that CHCHD10

[HTML][HTML] Chchd10 is dispensable for myogenesis but critical for adipose browning

W Xia, J Qiu, Y Peng, MM Snyder, L Gu, K Huang… - Cell Regeneration, 2022 - Springer
skeletal muscle and adipose tissues remains unclear. Here we show that Chchd10
We performed western blots to confirm the absence of the CHCHD10 protein in KO muscles

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

S Ajroud-Driss, F Fecto, K Ajroud, I Lalani, SE Calvo… - Neurogenetics, 2015 - Springer
… showed that CHCHD10 expression is enriched in skeletal muscle (… that CHCHD10 expression
is enriched in skeletal muscle (… of CHCHD10 protein expression in human skeletal muscle

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions

SR Burstein, F Valsecchi, H Kawamata… - Human molecular …, 2018 - academic.oup.com
proteins in heart, liver, pancreas and skeletal muscle. The patterns of tissue expression of
CHCHD10 … very similar, consistent with the finding that they form a multimeric protein complex. …

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein …

IR Straub, W Weraarpachai… - Human Molecular …, 2021 - academic.oup.com
CHCHD10 is a soluble 14 kDa mitochondrial protein that is … However, the precise function
of CHCHD10 remains … to the identification of mutations in CHCHD10, these deficiencies were …

[HTML][HTML] Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology

ÉB Ryan, J Yan, N Miller, S Dayanidhi, YC Ma… - Iscience, 2021 - cell.com
… Despite the pathology, CHCHD10-R15L transgenic mice perform comparably to … of CHCHD10
and suggest a contribution of CNS, skeletal muscle, and cardiac pathology to CHCHD10 p…

[HTML][HTML] Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle

N Neupane, J Rajendran, J Kvist… - Communications …, 2022 - nature.com
… We highlight a potential role for Chchd10 in mitochondrial protein import stress, and
identify Acox2 as a peroxisomal marker of ISR. This study emphasized the crosstalk between …

Mitochondrial CHCHD-containing proteins: physiologic functions and link with neurodegenerative diseases

ZD Zhou, WT Saw, EK Tan - Molecular neurobiology, 2017 - Springer
… Mutations of CHCHD10 are associated with amyotrophic lateral sclerosis (ALS) and/or …
carrying CHCHD10 mutations [8]. The accumulation of mtDNA deletions in skeletal muscle can …

[HTML][HTML] OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy

MK Shammas, X Huang, BP Wu… - The Journal of …, 2022 - Am Soc Clin Investig
… We also observed OMA1 cleavage of L-OPA1 in skeletal muscle tissue of the proband,
demonstrating that the OMA1 stress response to C10 G58R protein was conserved between mice …

CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature

MK Shammas, Y Nie, A Gilsrud, X Huang… - Human Molecular …, 2024 - academic.oup.com
… intermembrane space protein CHCHD10 cause human … -frontotemporal dementia, spinal
muscular atrophy Jokela-type, … , skeletal muscle, livers and spinal cords of WT and Chchd10