Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.R15S
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CHCHD10

NM_213720.3:p.R15S

Associated Papers

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

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

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.

Shammas MK et al.

Biochemical Society Transactions, 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

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Keith JL et al.

Neurology. Genetics, 2020

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

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

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F et al.

Neurobiology of Aging, 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

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.

Modjtahedi N et al.

Trends in Biochemical Sciences, 2016

Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Dobson-Stone C et al.

Brain : a Journal of Neurology, 2015

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Bannwarth S et al.

Brain : a Journal of Neurology, 2015

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Zhang M et al.

Brain : a Journal of Neurology, 2015

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Ronchi D et al.

Brain : a Journal of Neurology, 2015

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Ajroud-Driss S et al.

Neurogenetics, 2015

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Penttilä S et al.

Annals of Neurology, 2015

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis.

Cozzolino M et al.

Frontiers in Cellular Neuroscience, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."