Neringa Pratuseviciute

Filename Description mds70291-sup-0001-Supinfo.docxWord 2007 document , 1.3 MB Data S1: Comprises Supplementary Methods, Supplementary Clinical Information, Table (Overview on additional individuals included in LRRK2 kinase activity analyses), Figure (Pedigrees of Family 1 and 3), Figure (Representative immunoblots demonstrating LRRK2 dependent Rab10Thr73phosphorylation in patient- and control-derived clinical samples), and Supplementary References.

The global increase in the number of people living with Parkinson's disease (PD), now over 10 million cases, highlights the urgent need for disease-modifying treatments.1 Clinical trials targeting molecular pathways linked to PD, particularly those involving genetic factors, are therefore of great interest.

Keywords LRRK2 kinase Parkinson’s disease phosphatase primary cilia Rab GTPase Research topic(s) CP: Cell biology CP: Neuroscience Introduction While the cause of most Parkinson’s disease (PD) cases is unknown, perhaps as many as 15% of PD cases are due to genetic variation.1,2,3,4 Of these, around 3% are due to activating variants in the leucine-rich repeat kinase 2 (LRRK2) gene,3,4,5 making it one of the most clinically relevant PD genes.