The genetics of Parkinson disease

H Deng, P Wang, J Jankovic - Ageing research reviews, 2018 - Elsevier
About 15% of patients with Parkinson disease (PD) have family history and 5–10% have a
monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 …

Cell biology and pathophysiology of α-synuclein

J Burré, M Sharma, TC Südhof - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
α-Synuclein is an abundant neuronal protein that is highly enriched in presynaptic nerve
terminals. Genetics and neuropathology studies link α-synuclein to Parkinson's disease (PD) …

Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson's disease mouse model

TSZ Fang, Y Sun, AC Pearce, S Eleuteri… - Nature …, 2023 - nature.com
Mutations in SNCA, the gene encoding α-synuclein (αSyn), cause familial Parkinson's
disease (PD) and aberrant αSyn is a key pathological hallmark of idiopathic PD. This α …

The genetic background of Parkinson's disease: current progress and future prospects

K Kalinderi, S Bostantjopoulou… - Acta Neurologica …, 2016 - Wiley Online Library
Almost two decades of genetic research in Parkinson's disease (PD) have remarkably
increased our knowledge regarding the genetic basis of PD with numerous genes and …

Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43

A Tarutani, T Adachi, H Akatsu, Y Hashizume… - Acta …, 2022 - Springer
Intracellular accumulation of abnormal proteins with conformational changes is the defining
neuropathological feature of neurodegenerative diseases. The pathogenic proteins that …

[HTML][HTML] Effects of N-terminal acetylation on the aggregation of disease-related α-synuclein variants

R Bell, M Castellana-Cruz, A Nene, RJ Thrush… - Journal of Molecular …, 2023 - Elsevier
Mutations in the SNCA gene, which encodes the protein α-synuclein, have been linked with
early onset Parkinson's disease. The exact nature of this association, however, is still poorly …

Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases

PJ Sampognaro, S Arya, GM Knudsen… - Molecular …, 2023 - Springer
Background Autosomal dominant mutations in α-synuclein, TDP-43 and tau are thought to
predispose to neurodegeneration by enhancing protein aggregation. While a subset of α …

Versatile structures of α-synuclein

C Wang, C Zhao, D Li, Z Tian, Y Lai, J Diao… - Frontiers in molecular …, 2016 - frontiersin.org
α-Synuclein (α-syn) is an intrinsically disordered protein abundantly distributed in
presynaptic terminals. Aggregation of α-syn into Lewy bodies (LB) is a molecular hallmark of …

Challenges in clinicogenetic correlations: one gene–many phenotypes

F Magrinelli, B Balint, KP Bhatia - Movement Disorders Clinical …, 2021 - Wiley Online Library
Background Progress in genetics–particularly the advent of next‐generation sequencing
(NGS)–has enabled an unparalleled gene discovery and revealed unmatched complexity of …

The usual suspects, dopamine and alpha‐synuclein, conspire to cause neurodegeneration

DE Mor, MJ Daniels, H Ischiropoulos - Movement Disorders, 2019 - Wiley Online Library
Parkinson's disease (PD) is primarily a movement disorder driven by the loss of dopamine‐
producing neurons in the substantia nigra (SN). Early identification of the oxidative …