Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.E18V
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PPARGC1A

NM_013261.5:p.E18V

Associated Papers

G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.

Stykel MG et al.

Cell Reports, 2025

Mechanism and Clinical Application Prospects of Mitochondrial DNA Single Nucleotide Polymorphism in Neurodegenerative Diseases.

Xu M et al.

Neurochemical Research, 2024

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

The role of mutations associated with familial neurodegenerative disorders on blood-brain barrier function in an iPSC model.

Katt ME et al.

Fluids and Barriers of the Cns, 2019

The PPARGC1A locus and CNS-specific PGC-1α isoforms are associated with Parkinson's Disease.

Soyal SM et al.

Neurobiology of Disease, 2019

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

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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."