Article
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2022
Coku Ilda, Mutez Eugénie, Eddarkaoui Sabiha, Carrier Sébastien, Marchand Antoine, Deldycke Claire, Goveas Liesel, Baille Guillaume, Tir Mélissa, Magnez Romain, Thuru Xavier, Vermeersch Gaëlle, Vandenberghe Wim, Buée Luc, Defebvre Luc, Sablonnière Bernard, Chartier-Harlin Marie-Christine, Taymans Jean-Marc, Huin Vincent
Abstract excerpt
BACKGROUND: Pathogenic variants in the LRRK2 gene are a common monogenic cause of Parkinson's disease. However, only seven variants have been confirmed to be pathogenic. OBJECTIVES: We identified two novel LRRK2 variants (H230R and A1440P) and performed functional testing. METHODS: We transiently expressed wild-type, the two new variants, or two known pathogenic mutants (G2019S and R1441G) in HEK-293 T cells,...
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