Associated Papers
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
Charcot-Marie-Tooth disease and related neuropathies.
Burns J et al.
Nature Reviews. Disease Primers, 2026
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
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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS.
Wang Y et al.
Frontiers in Neurology, 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
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 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
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
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
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 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
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.
Laaksovirta H et al.
Neurology. Genetics, 2022
CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.
Ruan Y et al.
Cell Death & Disease, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.
Sainio MT et al.
Acta Neurologica Scandinavica, 2022
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.
Järvilehto J et al.
Frontiers in Neurology, 2022
Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?
Ikeda A et al.
Frontiers in Cell and Developmental Biology, 2022
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
Pinto WBVR et al.
Arquivos De Neuro-psiquiatria, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 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
Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degenerations: Similarities in Genetic Background.
Parobkova E et al.
Diagnostics (basel, Switzerland), 2021
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
Liu YT et al.
Human Molecular Genetics, 2020
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
Examining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs.
Halpern M et al.
Neurobiology of Disease, 2019
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response.
Anderson CJ 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
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Genin EC et al.
Neurobiology of Disease, 2018
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Unknown Author
Annals of Neurology, 2018
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.
Lehmer C et al.
Embo Molecular Medicine, 2018