Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.Q126*
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CHCHD2

NM_016139.4:p.Q126*

Associated Papers

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

Role of the mitochondrial regulatory factor CHCHD2 in neurodegenerative diseases.

Guo X et al.

Frontiers in Neuroscience, 2025

Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes.

Leventoux N et al.

Acta Neuropathologica, 2024

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 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

The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.

Eintracht J et al.

Frontiers in Cellular Neuroscience, 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

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

Zhou ZD et al.

Molecular Neurobiology, 2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

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

Rubino E et al.

Neurobiology of Aging, 2017

Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria.

Gagliardi M et al.

Neurobiology of Aging, 2017

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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."