Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

doi:10.1002/ana.25629

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Article

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Annals of neurology - 1 Jan 2020

Krohn Lynne, Öztürk Tuğba Nur, Vanderperre Benoît, Ouled Amar Bencheikh Bouchra, Ruskey Jennifer A, Laurent Sandra B, Spiegelman Dan, Postuma Ronald B, Arnulf Isabelle, Hu Michele T M, Dauvilliers Yves, Högl Birgit, Stefani Ambra, Monaca Christelle Charley, Plazzi Giuseppe, Antelmi Elena, Ferini-Strambi Luigi, Heidbreder Anna, Rudakou Uladzislau, Cochen De Cock Valérie, Young Peter, Wolf Pavlina, Oliva Petra, Zhang Xiaokui Kate, Greenbaum Lior, Liong Christopher, Gagnon Jean-François, Desautels Alex, Hassin-Baer Sharon, Montplaisir Jacques Y, Dupré Nicolas, Rouleau Guy A, Fon Edward A, Trempe Jean-François, Lamoureux Guillaume, Alcalay Roy N, Gan-Or Ziv

Abstract excerpt

OBJECTIVE: The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome-wide association studies of Parkinson disease (PD). We aimed to identify the specific disease-associated variants in this locus, and their potential implications. METHODS: Full sequencing of TMEM175/GAK/DGKQ followed by genotyping of specific associated variants was performed in PD (n = 1,575) and rapid eye movement sleep behavior...

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PMID: 31658403
DOI: 10.1002/ana.25629

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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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