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Article

A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism.

Cell reports. Medicine - 15 Oct 2024

Decet Marianna, Scott Patrick, Kuenen Sabine, Meftah Douja, Swerts Jef, Calatayud Carles, Gallego Sandra F, Kaempf Natalie, Nachman Eliana, Praschberger Roman, Schoovaerts Nils, Tang Chris C, Eidelberg David, Al Adawi Samir, Al Asmi Abdullah, Nandhagopal Ramachandiran, Verstreken Patrik

Abstract excerpt

Synaptic dysfunction is recognized as an early step in the pathophysiology of parkinsonism. Several genetic mutations affecting the integrity of synaptic proteins cause or increase the risk of developing disease. We have identified a candidate causative mutation in synaptic "SH3GL2 Interacting Protein 1" (SGIP1), linked to early-onset parkinsonism in a consanguineous Arab family. Additionally, affected siblings...

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Identifiers

PMID: 39332416
DOI: 10.1016/j.xcrm.2024.101749
PMCID: PMC11513836

Genes

SGIP1
SH3GL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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