Journal article
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort
Y Gao, GR Wilson, N Salce, A Romano, GD Mellick, SEM Stephenson, PJ Lockhart
Frontiers in Neurology | FRONTIERS MEDIA SA | Published : 2020
Open access
Abstract
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, and while an increased dosage of RAB39B was previously associated with cognitive impairment, the potential role of dosage alterations in Parkinson's disease (PD) remains to be determined. This study aimed to investigate the contribution of the genetic variation in RAB39B to the development of early-onset PD. We performed gene dosage studies and sequence analysis in a cohort of 176 individuals with early-onset PD (age of onset ≤ 50 years) of unknown..
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Awarded by McCusker Charitable Foundation
Funding Acknowledgements
This work was funded in part by the McCusker charitable foundation, the national health and medical research council (Australia) project Grant No (GNT1041860 and GNT1144724), and the Michael J. Fox foundation/shake it up Grant No (12173) to PL. Additional infrastructure funding to the Murdoch children's research institute was provided by the Australian government national health, the medical research council independent research institute infrastructure support scheme, and the victorian government's operational infrastructure support program. PL is supported by the vincent chiodo foundation. The funding bodies had no role in the design, analysis, interpretation, or reporting of results.