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Updated: Jun 9, 2025

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
Published on: December 14, 2017
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease
Mandy Radefeldt1, Sabrina Lemke1, Kridsadakorn Chaichoompu1
1CENTOGENE GmbH, Rostock, Germany.
Background:
The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).
Objective:
The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.
Methods:
We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.
Results:
p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found in-cis to a set of proximal single-nucleotide polymorphisms. Additional RAB32 variants were comparably frequent in PD and non-PD individuals.
Conclusions:
The RAB32 p.Ser71Arg variant defines a cluster of PD patients in northern Italy. Globally, it is most prevalent in MENA. Our data indicate that p.Ser71Arg causes PD and that it occurred only once, through a founder event. Other RAB32 variants are unlikely to cause PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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