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Article

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Parkinsonism & related disorders - 1 Jan 2016

Petrucci Simona, Ginevrino Monia, Valente Enza Maria

Abstract excerpt

The identification of the p.A53T mutation in the SNCA gene encoding alpha-synuclein (alpha-syn), as causative of autosomal dominant Parkinson disease (PD) represented a fundamental milestone, which paved the way to the extremely prolific field of PD genetics. Despite being the oldest player in this field and only a rare cause of inherited PD, research on alpha-syn has remained incredibly active over nearly twenty...

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Source

Identifiers

PMID: 26341711
DOI: 10.1016/j.parkreldis.2015.08.015

Genes

SNCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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