Genetics of Parkinson's disease: an introspection of its journey towards precision medicine

S Bandres-Ciga, M Diez-Fairen, JJ Kim… - Neurobiology of …, 2020 - Elsevier
ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …

Genetics of Parkinson's disease

A Cherian, KP Divya - Acta Neurologica Belgica, 2020 - Springer
Less than a quarter century after the discovery of SNCA as the first attributable gene in
Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease …

Parkinson's disease–genetic cause

A Cherian, KP Divya… - Current Opinion in …, 2023 - journals.lww.com
This review article aims to provide a comprehensive overview on Parkinson's disease
genetics. MAPT, which encodes the microtubule associated protein tau, TMEM230, LRP10 …

Autophagy lysosomal pathway dysfunction in Parkinson's disease; evidence from human genetics

K Senkevich, Z Gan-Or - Parkinsonism & related disorders, 2020 - Elsevier
In recent years, multiple lines of evidence from human genetic and molecular studies have
highlighted the importance of the autophagy lysosomal pathway (ALP) in Parkinson's …

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease

Y Oji, T Hatano, SI Ueno, M Funayama, K Ishikawa… - Brain, 2020 - academic.oup.com
Recently, the genetic variability in lysosomal storage disorders has been implicated in the
pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a …

Large-scale rare variant burden testing in Parkinson's disease

MB Makarious, J Lake, V Pitz, A Ye Fu, JL Guidubaldi… - Brain, 2023 - academic.oup.com
Parkinson's disease has a large heritable component and genome-wide association studies
have identified over 90 variants with disease-associated common variants, providing deeper …

Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits

C Wang, C Yang, D Western, M Ali, Y Wang… - Nature Genetics, 2024 - nature.com
Brain metabolism perturbation can contribute to traits and diseases. We conducted a
genome-wide association study for cerebrospinal fluid (CSF) and brain metabolite levels …

Expanding causal genes for Parkinson's disease via multi-omics analysis

XJ Gu, WM Su, M Dou, Z Jiang, QQ Duan… - npj Parkinson's …, 2023 - nature.com
Genome‑wide association studies (GWASs) have revealed numerous loci associated with
Parkinson's disease (PD). However, some potential causal/risk genes were still not revealed …

The endo-lysosomal system in Parkinson's disease: Expanding the horizon

A Muraleedharan, B Vanderperre - Journal of Molecular Biology, 2023 - Elsevier
Parkinson's disease (PD) is the second most common neurodegenerative disorder after
Alzheimer's disease, and its prevalence is increasing with age. A wealth of genetic evidence …

[HTML][HTML] From Lysosomal Storage Disorders to Parkinson's Disease–Challenges and Opportunities

R Mächtel, FA Boros, JP Dobert, P Arnold… - Journal of Molecular …, 2023 - Elsevier
Lysosomes are specialized organelles with an acidic pH that act as recycling hubs for
intracellular and extracellular components. They harbour numerous different hydrolytic …