Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.S495F
Back to variants list

OPA1

NM_130837.3:p.S495F

Associated Papers

Parkinson's Disease with a Novel OPA1 Mutation Successfully Treated with Deep Brain Stimulation.

Luiso F et al.

Movement Disorders Clinical Practice, 2025

Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.

Harvey JP et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2022

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.

Müller-Nedebock AC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.

Iannielli A et al.

Cell Reports, 2018

29466734 (PubMed )
Supplement: mmc2.pdf

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Carelli V et al.

Annals of Neurology, 2015

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P et al.

Brain : a Journal of Neurology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."