Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.R145Q
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CHCHD2

NM_016139.4:p.R145Q

Associated Papers

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

Kafantari E et al.

Genes, 2025

The Aggregation Continuum of α-Synuclein and Its Relevance to Brain Aging.

Rana A et al.

Acs Chemical Neuroscience, 2025

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

Dysregulation of mitochondrial α-ketoglutarate dehydrogenase leads to elevated lipid peroxidation in CHCHD2-linked Parkinson's disease models.

Gao G et al.

Nature Communications, 2025

40011434 (PubMed )
Supplement: 41467_2025_57142_MOESM9_ESM.pdf

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

Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q).

Chen X et al.

Stem Cell Research, 2024

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

Leventoux N et al.

Acta Neuropathologica, 2024

Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.

Tio M et al.

Journal of Biomedical Science, 2024

Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2.

Torii S et al.

Embo Molecular Medicine, 2023

Genetic Movement Disorders Commonly Seen in Asians.

Jagota P et al.

Movement Disorders Clinical Practice, 2023

Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation.

Kee TR et al.

Human Molecular Genetics, 2022

Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2.

Nguyen MK et al.

Human Molecular Genetics, 2022

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

Jia F et al.

Genes, 2022

CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.

Ruan Y et al.

Cell Death & Disease, 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

CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.

Mao C et al.

Neurobiology of Aging, 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 mutational screening in Brazilian patients with familial Parkinson's disease.

Voigt DD et al.

Neurobiology of Aging, 2019

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

A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy.

Nicoletti G et al.

Parkinsonism & Related Disorders, 2018

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

Zhou ZD et al.

Molecular Neurobiology, 2017

Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants.

Tio M et al.

Human Mutation, 2017

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

Kim JM

Human Mutation, 2017

Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c.

Meng H et al.

Nature Communications, 2017

Genetic analysis of CHCHD2 in a southern Spanish population.

Tejera-Parrado C 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

MNRR1, a Biorganellar Regulator of Mitochondria.

Grossman LI et al.

Oxidative Medicine and Cellular Longevity, 2017

Genetic analysis of CHCHD2 gene in Chinese Parkinson's disease.

Li NN et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

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

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

Modjtahedi N et al.

Trends in Biochemical Sciences, 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

Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.

Liu Z et al.

Neurobiology of Aging, 2015

CHCHD2 and Parkinson's disease.

Jansen IE et al.

The Lancet. Neurology, 2015

CHCHD2 and Parkinson's disease.

Iqbal Z et al.

The Lancet. Neurology, 2015

CHCHD2 and Parkinson's disease.

Foo JN et al.

The Lancet. Neurology, 2015

CHCHD2 and Parkinson's disease--authors' reply.

Funayama M et al.

The Lancet. Neurology, 2015

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M 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."