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
Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.
Woo E et al.
Cell Death & Disease, 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
Dysregulation of mitochondrial α-ketoglutarate dehydrogenase leads to elevated lipid peroxidation in CHCHD2-linked Parkinson's disease models.
Gao G et al.
Nature Communications, 2025
Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.
Woo E et al.
Biorxiv : the Preprint Server for Biology, 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
The Underestimated Role of Iron in Frontotemporal Dementia: A Narrative Review.
Ferretti S et al.
International Journal of Molecular Sciences, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Biorxiv : the Preprint Server for Biology, 2024
Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.
Clayton EL et al.
Brain : a Journal of Neurology, 2024
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 2024
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
Shammas MK et al.
Human Molecular Genetics, 2023
Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
Liu T et al.
Cells, 2023
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Genin EC et al.
Genes, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.
Alici H et al.
Proteins, 2023
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.
Shammas MK et al.
Biochemical Society Transactions, 2023
Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response.
Petel Légaré V et al.
Developmental Neurobiology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Simple models to understand complex disease: 10 years of progress from Caenorhabditis elegans models of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Eck RJ et al.
Frontiers in Neuroscience, 2023
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Shammas MK et al.
The Journal of Clinical Investigation, 2022
Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.
Liu T et al.
Acta Neuropathologica Communications, 2022
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
Mechanistic Insights of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis: An Update on a Lasting Relationship.
Candelise N et al.
Metabolites, 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
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
Straub IR et al.
Human Molecular Genetics, 2021
TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.
Baek M et al.
Nature Communications, 2021
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology.
Ryan ÉB et al.
Iscience, 2021
Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.
Kee TR et al.
Frontiers in Aging Neuroscience, 2021
Mitochondria Dysfunction in Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: Lessons From Drosophila Models.
Anoar S et al.
Frontiers in Neuroscience, 2021
CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.
Liu T et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications.
Zhou W et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2020
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
McCann EP et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.
Keith JL et al.
Neurology. Genetics, 2020
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Ranganathan R et al.
Frontiers in Neuroscience, 2020