[HTML][HTML] The genetics of Parkinson's disease and implications for clinical practice

JO Day, S Mullin - Genes, 2021 - mdpi.com
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Alpha-synuclein structure and Parkinson's disease–lessons and emerging principles

RM Meade, DP Fairlie, JM Mason - Molecular neurodegeneration, 2019 - Springer
Alpha-synuclein (αS) is the major constituent of Lewy bodies and a pathogenic hallmark of
all synucleinopathathies, including Parkinson's disease (PD), dementia with Lewy bodies …

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

KY Hui, H Fernandez-Hernandez, J Hu… - Science translational …, 2018 - science.org
Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in
Ashkenazi Jewish than in non-Jewish European populations. To define the role of …

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study

A Westenberger, V Skrahina, T Usnich, C Beetz… - Brain, 2024 - academic.oup.com
Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD)
in different populations are currently limited and biased. Furthermore, although therapeutic …

Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser

SC Parlar, FP Grenn, JJ Kim… - Movement …, 2023 - Wiley Online Library
Background GBA1 variants are among the most common genetic risk factors for Parkinson's
disease (PD). GBA1 variants can be classified into three categories based on their role in …

Therapeutic application of natural products: NAD+ metabolism as potential target

C Guo, Q Huang, Y Wang, Y Yao, J Li, J Chen, M Wu… - Phytomedicine, 2023 - Elsevier
Background Nicotinamide adenine dinucleotide (NAD+) metabolism is involved in the entire
physiopathological process and is critical to human health. Long-term imbalance in NAD+ …

Dysregulation of ubiquitin-proteasome system in neurodegenerative diseases

Q Zheng, T Huang, L Zhang, Y Zhou, H Luo… - Frontiers in aging …, 2016 - frontiersin.org
The ubiquitin-proteasome system (UPS) is one of the major protein degradation pathways,
where abnormal UPS function has been observed in cancer and neurological diseases …

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study

L Cook, J Verbrugge, TH Schwantes-An, J Schulze… - Brain, 2024 - academic.oup.com
Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have
been formally adjudicated as causal contributors to Parkinson's disease; however …

Identification of sixteen novel candidate genes for late onset Parkinson's disease

A Gialluisi, MG Reccia, N Modugno, T Nutile… - Molecular …, 2021 - Springer
Background Parkinson's disease (PD) is a neurodegenerative movement disorder affecting
1–5% of the general population for which neither effective cure nor early diagnostic tools are …

Biomarkers in Parkinson's disease

A Surguchov - … diseases biomarkers: Towards translating research to …, 2022 - Springer
Parkinson's disease (PD) is the second most common neurodegenerative disorder, with a
documented significant increase in its prevalence in the past three decades. Both …