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 …

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

JAA Woo, T Liu, C Trotter, CC Fang… - Nature …, 2017 - nature.com
Although multiple CHCHD10 mutations are associated with the spectrum of familial and
sporadic frontotemporal dementia–amyotrophic lateral sclerosis (FTD–ALS) diseases …

Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10

T Liu, JAA Woo, MZ Bukhari, X Wang, Y Yan… - Acta Neuropathologica …, 2022 - Springer
Mutations in CHCHD10, a gene coding for a mitochondrial intermembrane space protein,
are associated with Frontotemporal dementia (FTD)-Amyotrophic lateral sclerosis (ALS) …

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 …

Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation

TR Kee, JL Wehinger, PE Gonzalez… - Human molecular …, 2022 - academic.oup.com
Abstract Coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) is a
mitochondrial protein that plays important roles in cristae structure, oxidative …

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 …

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

P Pasanen, L Myllykangas, M Pöyhönen… - Acta Neurologica …, 2016 - Wiley Online Library
Objectives Mutations in the CHCHD 10 gene, which encodes a mitochondrially targeted
protein, have emerged as an important cause of motor neuron disease and frontotemporal …

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

S Bannwarth, S Ait-El-Mkadem, A Chaussenot… - Brain, 2016 - academic.oup.com
Sir, In 2014, we provided a genetic basis to support the conclusion that mitochondrial
dysfunction can have a causative effect in motor neuron degeneration. We reported a large …

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 …

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

S Bannwarth, S Ait-El-Mkadem, A Chaussenot… - Brain, 2014 - academic.oup.com
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …