Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.P34L
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CHCHD2

NM_016139.4:p.P34L

Associated Papers

Effects of pathological mutations on the CHCHD2 monomer structure: A study by AlphaFold3 linked to the generation of conformational ensembles.

Özmen ZA et al.

Computers in Biology and Medicine, 2025

Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.

Guo X et al.

Frontiers in Neuroscience, 2025

Loss of CHCHD2 Stability Coordinates with C1QBP/CHCHD2/CHCHD10 Complex Impairment to Mediate PD-Linked Mitochondrial Dysfunction.

Ren YL et al.

Molecular Neurobiology, 2024

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Genetic Movement Disorders Commonly Seen in Asians.

Jagota P et al.

Movement Disorders Clinical Practice, 2023

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Jia F et al.

Genes, 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

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

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

PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction.

Zhou W et al.

Human Molecular Genetics, 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

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG et al.

Neurology. Genetics, 2018

Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China.

Liu X et al.

Molecular Medicine Reports, 2018

Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Zhou ZD et al.

Molecular Neurobiology, 2017

Pathophysiologic effects of CHCHD2 variants associated with late-onset Parkinson disease.

Kim JM

Human Mutation, 2017

Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.

Rubino E et al.

Neurobiology of Aging, 2017

Mutational analysis of CHCHD2 in Chinese patients with multiple system atrophy and amyotrophic lateral sclerosis.

Yang X et al.

Journal of the Neurological Sciences, 2016

Mutation analysis of the CHCHD2 gene in Chinese Han patients with Parkinson's disease.

Lu Q et al.

Parkinsonism & Related Disorders, 2016

Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature.

Yang X et al.

Parkinsonism & Related Disorders, 2016

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

Zhang M et al.

Neurobiology of Aging, 2016

CHCHD2 gene mutations in familial and sporadic Parkinson's disease.

Shi CH et al.

Neurobiology of Aging, 2016

CHCHD2 and Parkinson's disease.

Jansen IE et al.

The Lancet. Neurology, 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."