Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

doi:10.1002/mds.29124

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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...

Topics

HEK293 Cells
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Mutation
Parkinson Disease
Protein Serine-Threonine Kinases

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Identifiers

PMID: 35708213
DOI: 10.1002/mds.29124
PMCID: PMC9543145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-35708213-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.