Genetics and pathogenesis of Parkinson's syndrome

H Ye, LA Robak, M Yu, M Cykowski… - Annual Review of …, 2023 - annualreviews.org
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …

α-Synuclein in synaptic function and dysfunction

M Sharma, J Burré - Trends in neurosciences, 2023 - cell.com
Abstract α-Synuclein is a neuronal protein that is enriched in presynaptic terminals. Under
physiological conditions, it binds to synaptic vesicle membranes and functions in …

Parkinson's disease-risk protein TMEM175 is a proton-activated proton channel in lysosomes

M Hu, P Li, C Wang, X Feng, Q Geng, W Chen… - Cell, 2022 - cell.com
Lysosomes require an acidic lumen between pH 4.5 and 5.0 for effective digestion of
macromolecules. This pH optimum is maintained by proton influx produced by the V-ATPase …

The genetic architecture of Parkinson's disease

C Blauwendraat, MA Nalls, AB Singleton - The Lancet Neurology, 2020 - thelancet.com
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …

Ferroptosis and its potential role in the physiopathology of Parkinson's Disease

L Mahoney-Sánchez, H Bouchaoui, S Ayton… - Progress in …, 2021 - Elsevier
Parkinson's Disease (PD) is a common and progressive neurodegenerative disorder
characterised by motor impairments as well as non-motor symptoms. While dopamine …

Parkinson disease and the immune system—associations, mechanisms and therapeutics

EK Tan, YX Chao, A West, LL Chan, W Poewe… - Nature Reviews …, 2020 - nature.com
Multiple lines of evidence indicate that immune system dysfunction has a role in Parkinson
disease (PD); this evidence includes clinical and genetic associations between autoimmune …

[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 …

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

M Rizig, S Bandres-Ciga, MB Makarious… - The Lancet …, 2023 - thelancet.com
Background An understanding of the genetic mechanisms underlying diseases in
ancestrally diverse populations is an important step towards development of targeted …

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 …

Initiation and propagation of α-synuclein aggregation in the nervous system

BA Hijaz, LA Volpicelli-Daley - Molecular neurodegeneration, 2020 - Springer
The two main pathological hallmarks of Parkinson's disease are loss of dopamine neurons
in the substantia nigra pars compacta and proteinaceous amyloid fibrils composed mostly of …