Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P12S
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CHCHD10

NM_213720.3:p.P12S

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

CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.

Ikeda A et al.

Pnas Nexus, 2024

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

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?

Ikeda A et al.

Frontiers in Cell and Developmental Biology, 2022

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

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

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

Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Zhou Q 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

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

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

Dols-Icardo O et al.

Brain : a Journal of Neurology, 2015

CHCHD10 is not a frequent causative gene in Chinese ALS patients.

Li XL et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 0

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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."