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 …
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
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 …
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 …
genes are discovered constantly. Therefore, whole‐exome sequencing could be an efficient …
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk
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 …
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
Abstract Background The Iberian Peninsula stands out as having variable levels of
population admixture and isolation, making Spain an interesting setting for studying the …
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 …
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 …
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 …
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 …
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 …
phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically …