Functional analyses of two novel LRRK2 pathogenic variants in familial Parkinson's disease
Ilda Coku, Eugénie Mutez, Sabiha Eddarkaoui, Sébastien Carrier, Antoine Marchand, Claire Deldycke, Liesel Mary Goveas, Guillaume Baille, Mélissa Tir, Romain Magnez, Xavier Thuru, Gaëlle Vermeersch, Wim Vandenberghe, Luc Buée, Luc Defebvre, , Vincent Huin
The paper identifies two novel LRRK2 variants associated with familial Parkinson's disease and shows they alter phosphorylation and kinase activity.
Movement Disorders · Jun 16, 2022Peer-reviewedGenetics