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 …
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Although multiple CHCHD10 mutations are associated with the spectrum of familial and
sporadic frontotemporal dementia–amyotrophic lateral sclerosis (FTD–ALS) diseases …
sporadic frontotemporal dementia–amyotrophic lateral sclerosis (FTD–ALS) diseases …
Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10
Mutations in CHCHD10, a gene coding for a mitochondrial intermembrane space protein,
are associated with Frontotemporal dementia (FTD)-Amyotrophic lateral sclerosis (ALS) …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are …