A Functional Genetic Atlas of Parkin Resolves Variants of Uncertain Significance and Predicts Parkinson’s Disease Age at Onset

Abstract excerpt

Autosomal recessive mutations in the Parkin gene ( PRKN ) cause early-onset Parkinson’s disease (PD). Parkin functions as a ubiquitin E3 ligase acting downstream of the PINK1 kinase to promote phosphorylated ubiquitin at sites of mitochondrial damage. Yet the functional effects of most PRKN gene variants remain unknown. Here we use a pooled cellular assay measuring phosphorylated ubiquitin accumulation to quanti...

Topics

Open a Topic to create a Post that cites this publication.

• Autophagy in Disease and Therapy
• Genetic Neurodegenerative Diseases
• Genetics and Neurodevelopmental Disorders
• Lysosomal Storage Disorders Research
• Mutation
• Mutation, Missense
• Parkinson's Disease Mechanisms and Treatments
• Ubiquitin-Protein Ligases

Identifiers and source

Literature Corpus work

a1bb2817-c29c-55e9-b0b3-602f8a256514

DOI

10.64898/2026.02.09.704817