Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Abstract Bi-allelic pathogenic GBA1 variants cause Gaucher disease (GD), whereas certain heterozygous missense variants increase the risk of Parkinson’s disease (PD), although the underlying mechanisms are unclear. Here, we classified GBA1 missense variants using predictive and structural scores, an...

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Dades bibliogràfiques

Autors principals:	Aymeric Lanore, Christelle Tesson, Aymeric Basset, François-Xavier Lejeune, Guillaume Cogan, Graziella Mangone, Sara Sambin, Nathalie Bertille, Mathieu Anheim, Isabelle Arnulf, Solène Ansquer, Jean-Philippe Brandel, Christine Brefel-Courbon, Luc Defebvre, Sophie Drapier, Alexandre Eusebsio, Margherita Fabbri, Caroline Giordana, Elodie Hainque, Stephane Lehericy, Ana Marques, Caroline Moreau, Elena Moro, Fabienne Ory, Anne-Sophie Rolland, Stéphane Thobois, Marie Vidailhet, David Devos, Louise-Laure Mariani, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, for the Predistim study group, the Iceberg study group, the NSPark study group
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2025-08-01
Col·lecció:	npj Parkinson's Disease
Accés en línia:	https://doi.org/10.1038/s41531-025-01060-6
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