Associated Papers
A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunction.
Park J et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutant CHCHD10 disrupts cytochrome c oxidation and activates mitochondrial retrograde signaling.
Campos-Ribeiro MA et al.
Embo Molecular Medicine, 2025
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.
Kwan JY et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Nature Communications, 2025
Impacts of pathogenic mutations on the structures of the CHCHD10 monomer: An AlphaFold3 study linked to the generation of conformational ensembles.
Akkum FI et al.
International Journal of Biological Macromolecules, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Harjuhaahto S et al.
Acta Neuropathologica Communications, 2025
Mitochondrial DNA depletion syndrome and its cardiac complication.
Bao S et al.
Frontiers in Cardiovascular Medicine, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy.
Lin HP et al.
The Embo Journal, 2024
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Biorxiv : the Preprint Server for Biology, 2024
The impacts of the mitochondrial myopathy-associated G58R mutation on the dynamic structural properties of CHCHD10.
Alici H et al.
Journal of Biomolecular Structure & Dynamics, 2024
High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.
Southwell N et al.
Embo Molecular Medicine, 2024
DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.
Lin HP et al.
Biorxiv : the Preprint Server for Biology, 2024
High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.
Southwell N et al.
Biorxiv : the Preprint Server for Biology, 2023
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK et al.
Human Molecular Genetics, 2023
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Genin EC et al.
Genes, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Frontotemporal Dementia-Related V57E Mutation Impairs Mitochondrial Function and Alters the Structural Properties of CHCHD10.
Alici H et al.
Acs Chemical Neuroscience, 2023
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.
Shammas MK et al.
Biochemical Society Transactions, 2023
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.
Ratia N et al.
Frontiers in Neurology, 2023
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Genin EC et al.
Brain : a Journal of Neurology, 2022
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Shammas MK et al.
The Journal of Clinical Investigation, 2022
CHCHD2 and CHCHD10: Future therapeutic targets in cognitive disorder and motor neuron disorder.
Jiang T et al.
Frontiers in Neuroscience, 2022
Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?
Ikeda A et al.
Frontiers in Cell and Developmental Biology, 2022
TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.
Baek M et al.
Nature Communications, 2021
Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degenerations: Similarities in Genetic Background.
Parobkova E et al.
Diagnostics (basel, Switzerland), 2021
Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.
Keith JL et al.
Neurology. Genetics, 2020
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
Genin EC et al.
Acta Neuropathologica, 2019
Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.
Imai Y et al.
International Journal of Molecular Sciences, 2019
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.
Huang X et al.
Human Molecular Genetics, 2018
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy.
Rubino E et al.
Neurobiology of Aging, 2018
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.
Lehmer C et al.
Embo Molecular Medicine, 2018
Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.
Zhou ZD et al.
Molecular Neurobiology, 2017
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.
Penttilä S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
MNRR1, a Biorganellar Regulator of Mitochondria.
Grossman LI et al.
Oxidative Medicine and Cellular Longevity, 2017
Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.
Pasanen P et al.
Acta Neurologica Scandinavica, 2016
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Bannwarth S et al.
Brain : a Journal of Neurology, 2016