CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2
T Cornelissen, M Spinazzi, S Martin… - Human Molecular …, 2020 - academic.oup.com
The T61I mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), a
protein residing in the mitochondrial intermembrane space (IMS), causes an autosomal …
protein residing in the mitochondrial intermembrane space (IMS), causes an autosomal …
CHCHD2 p. Thr61Ile knock‐in mice exhibit motor defects and neuropathological features of Parkinson's disease
L Fan, S Zhang, X Li, Z Hu, J Yang, S Zhang… - Brain …, 2023 - Wiley Online Library
Abstract The p. Thr61Ile (p. T61I) mutation in coiled‐coil‐helix–coiled‐coil‐helix domain
containing 2 (CHCHD2) was deemed a causative factor in Parkinson's disease (PD) …
containing 2 (CHCHD2) was deemed a causative factor in Parkinson's disease (PD) …
PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction
Abstract Coiled-coil-helix-coiled-coil-helix domain containing protein 2 (CHCHD2) mutations
were linked with autosomal dominant Parkinson's disease (PD) and recently, Alzheimer's …
were linked with autosomal dominant Parkinson's disease (PD) and recently, Alzheimer's …
[HTML][HTML] Mitochondria, a key target in amyotrophic lateral sclerosis pathogenesis
EC Genin, M Abou-Ali, V Paquis-Flucklinger - Genes, 2023 - mdpi.com
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly
amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all …
amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all …
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
C Lehmer, MH Schludi, L Ransom… - EMBO molecular …, 2018 - embopress.org
CHCHD10 mutations are linked to amyotrophic lateral sclerosis, but their mode of action is
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
A Chaussenot, I Le Ber, S Ait-El-Mkadem… - Neurobiology of …, 2014 - Elsevier
Mutations in the CHCHD10 gene have been recently identified in a large family with a
complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic …
complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic …
Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
IR Straub, A Janer, W Weraarpachai… - Human molecular …, 2018 - academic.oup.com
Coiled-helix coiled-helix domain containing protein 10 (CHCHD10) and its paralogue
CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the …
CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the …
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations
YT Liu, X Huang, D Nguyen… - Human Molecular …, 2020 - academic.oup.com
Dominant mutations in the mitochondrial paralogs coiled-helix-coiled-helix (CHCHD)
domain 2 (C2) and CHCHD10 (C10) were recently identified as causing Parkinson's …
domain 2 (C2) and CHCHD10 (C10) were recently identified as causing Parkinson's …
[HTML][HTML] A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid …
F Ioakeimidis, C Ott, V Kozjak-Pavlovic, F Violitzi… - PloS one, 2014 - journals.plos.org
Mitochondrial structure and function is emerging as a major contributor to neuromuscular
disease, highlighting the need for the complete elucidation of the underlying molecular and …
disease, highlighting the need for the complete elucidation of the underlying molecular and …
[HTML][HTML] CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response
Y Ruan, J Hu, Y Che, Y Liu, Z Luo, J Cheng… - Cell Death & …, 2022 - nature.com
Mitochondrial dysfunction is becoming one of the main pathology factors involved in the
etiology of neurological disorders. Recently, mutations of the coiled-coil-helix-coiled-coil …
etiology of neurological disorders. Recently, mutations of the coiled-coil-helix-coiled-coil …