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
The neuromuscular junction (NMJ) is a synapse between motoneurons and skeletal
muscles to control motor behavior. Acetylcholine receptors (AChRs) are restricted at the …
muscles to control motor behavior. Acetylcholine receptors (AChRs) are restricted at the …
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
EC Genin, B Madji Hounoum, S Bannwarth… - Acta …, 2019 - Springer
Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger
motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial …
motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial …
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
Mitochondrial myopathies belong to a larger group of systemic diseases caused by
morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be …
morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be …
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
SJ Brockmann, A Freischmidt, P Oeckl… - Human molecular …, 2018 - academic.oup.com
Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by
an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in …
an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in …
Mitochondrial CHCHD2 and CHCHD10: roles in neurological diseases and therapeutic implications
W Zhou, D Ma, EK Tan - The Neuroscientist, 2020 - journals.sagepub.com
CHCHD2 mutations have been identified in various neurological diseases such as
Parkinson's disease (PD), frontotemporal dementia (FTD), and Alzheimer's disease (AD). It …
Parkinson's disease (PD), frontotemporal dementia (FTD), and Alzheimer's disease (AD). It …
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
Mutations affecting the mitochondrial intermembrane space protein CHCHD10 cause
human disease, but it is not known why different amino acid substitutions cause markedly …
human disease, but it is not known why different amino acid substitutions cause markedly …
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related …
EC Genin, S Bannwarth, F Lespinasse… - Neurobiology of …, 2018 - Elsevier
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral
Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p. Gly66Val) in the same gene …
Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p. Gly66Val) in the same gene …
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
X Huang, BP Wu, D Nguyen, YT Liu… - Human molecular …, 2018 - academic.oup.com
Mutations in paralogous mitochondrial proteins CHCHD2 and CHCHD10 cause autosomal
dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal …
dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal …
[HTML][HTML] Mitochondrial CHCHD2: disease-associated mutations, physiological functions, and current animal models
TR Kee, P Espinoza Gonzalez, JL Wehinger… - Frontiers in aging …, 2021 - frontiersin.org
Rare mutations in the mitochondrial protein coiled-coil-helix-coiled-coil-helix domain
containing 2 (CHCHD2) are associated with Parkinson's disease (PD) and other Lewy body …
containing 2 (CHCHD2) are associated with Parkinson's disease (PD) and other Lewy body …
CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p. T61I
C Mao, H Wang, H Luo, S Zhang, H Xu, S Zhang… - Neurobiology of …, 2019 - Elsevier
Previously we identified the p. Thr61Ile mutation in coiled-coil-helix-coiled-coil-helix domain
containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson's disease …
containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson's disease …