Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.T61I
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CHCHD2

NM_016139.4:p.T61I

Associated Papers

Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.

Smith VL et al.

Molecular Therapy. Nucleic Acids, 2026

41624332 (PubMed )
Supplement: mmc2.pdf

CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.

Narendra D et al.

Trends in Neurosciences, 2026

Transcriptional activation by MNRR1 is effected by recruiting p300 and can be induced by minimal peptides.

Purandare N et al.

Mitochondrion, 2026

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

Kafantari E et al.

Genes, 2025

CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology.

Liao SC et al.

Science Advances, 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

Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.

Lv G et al.

Nature Communications, 2025

Genetics of Parkinson's Disease: From Causes to Treatment.

Westenberger A et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 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

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

CHCHD2 mutant mice display mitochondrial protein accumulation and disrupted energy metabolism.

Liao SC et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Ikeda A et al.

Pnas Nexus, 2024

Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 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

CHCHD2 Thr61Ile mutation impairs F1F0-ATPase assembly in in vitro and in vivo models of Parkinson's disease.

Chen X et al.

Neural Regeneration Research, 2024

Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.

Yuan Y et al.

Frontiers in Neurology, 2024

CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.

Shammas MK et al.

Human Molecular Genetics, 2023

Involvement of Mitochondria in Parkinson's Disease.

Choong CJ et al.

International Journal of Molecular Sciences, 2023

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

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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."