VPS35, the retromer complex and Parkinson's disease

ET Williams, X Chen, DJ Moore - Journal of Parkinson's …, 2017 - content.iospress.com
Mutations in the vacuolar protein sorting 35 ortholog (VPS35) gene encoding a core
component of the retromer complex, have recently emerged as a new cause of late-onset …

[HTML][HTML] Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

C Simpson, L Vinikoor-Imler, FL Nassan… - Parkinsonism & Related …, 2022 - Elsevier
Introduction Variants in the leucine-rich repeat kinase 2 gene (LRRK2) are risk factors for
Parkinson's disease (PD), but their prevalence varies geographically, reflecting the locations …

Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease

B Schormair, D Kemlink, B Mollenhauer… - Clinical …, 2018 - Wiley Online Library
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease
genes are discovered constantly. Therefore, whole‐exome sequencing could be an efficient …

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk

SJ Lubbe, BI Bustos, J Hu, D Krainc… - Human molecular …, 2021 - academic.oup.com
Biallelic Parkin (PRKN) mutations cause autosomal recessive Parkinson's disease (PD);
however, the role of monoallelic PRKN mutations as a risk factor for PD remains unclear. We …

The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight

S Bandres‐Ciga, S Ahmed, MS Sabir… - Movement …, 2019 - Wiley Online Library
Abstract Background The Iberian Peninsula stands out as having variable levels of
population admixture and isolation, making Spain an interesting setting for studying the …

Mutation analysis of Parkinson's disease genes in a Russian data set

AK Emelyanov, TS Usenko, C Tesson… - Neurobiology of …, 2018 - Elsevier
Common variants and risk factors related to familial and sporadic cases of Parkinson's
disease (PD) in diverse populations have been identified at numerous genomic loci. In this …

[HTML][HTML] GBA analysis in next-generation era: pitfalls, challenges, and possible solutions

S Zampieri, S Cattarossi, B Bembi, A Dardis - The Journal of Molecular …, 2017 - Elsevier
Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are
responsible for Gaucher disease and represent the main genetic risk factor for developing …

[HTML][HTML] The emerging role of retromer in neuroprotection

KJ McMillan, HC Korswagen, PJ Cullen - Current opinion in cell biology, 2017 - Elsevier
Highlights•In the endosomal network retromer retrieves cargo away from the degradative
pathway.•Retromer dysfunction has been implicated in Parkinson's disease through different …

A genetic analysis of a Spanish population with early onset Parkinson's disease

TP Cristina, M Pablo, PM Teresa, VD Lydia, AR Irene… - PLoS …, 2020 - journals.plos.org
Introduction Both recessive and dominant genetic forms of Parkinson's disease have been
described. The aim of this study was to assess the contribution of several genes to the …

Overview of the impact of pathogenic LRRK2 mutations in Parkinson's Disease

G Ito, N Utsunomiya-Tate - Biomolecules, 2023 - mdpi.com
Leucine-rich repeat kinase 2 (LRRK2) is a large protein kinase that physiologically
phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically …