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Genetics and pathogenesis of Parkinson's syndrome
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
α-Synuclein in synaptic function and dysfunction
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 …
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
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 …
macromolecules. This pH optimum is maintained by proton influx produced by the V-ATPase …
The genetic architecture of Parkinson's disease
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 …
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 …
characterised by motor impairments as well as non-motor symptoms. While dopamine …
Parkinson disease and the immune system—associations, mechanisms and therapeutics
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 …
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 …
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
Background An understanding of the genetic mechanisms underlying diseases in
ancestrally diverse populations is an important step towards development of targeted …
ancestrally diverse populations is an important step towards development of targeted …
Genetics of Parkinson's disease: an introspection of its journey towards precision medicine
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. Progress in understanding the genetic basis of PD has been significant. So far …
Initiation and propagation of α-synuclein aggregation in the nervous system
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 …
in the substantia nigra pars compacta and proteinaceous amyloid fibrils composed mostly of …