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Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09336-7
Abstract: BackgroundRecently, rs2421947 in DNM3 (dynamin 3) was reported as a genetic modifier of age at onset (AAO) of LRRK2 G2019S-related Parkinson’s disease (PD) in a genome-wide association study in Arab-Berber population. Rs356219 in SNCA (α-synuclein)…
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Keywords:
snca;
dnm3;
chinese population;
lrrk2 related ... See more keywords
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Published in 2022 at "Autophagy"
DOI: 10.1080/15548627.2021.2016256
Abstract: ABSTRACT Accumulation of the neuronal protein SNCA/alpha-synuclein and of the oligodendroglial phosphoprotein TPPP/p25A within the glial cytoplasmic inclusions (GCIs) represents the key histophathological hallmark of multiple system atrophy (MSA). Even though the levels/distribution of both…
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Keywords:
system;
tppp;
snca;
tppp p25a ... See more keywords
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Published in 2022 at "Autophagy"
DOI: 10.1080/15548627.2022.2045534
Abstract: ABSTRACT Parkinson disease (PD) is a neurodegenerative disorder characterized by the abnormal intracellular accumulation of SNCA/α-synuclein. While the exact mechanisms underlying SNCA pathology are not fully understood, increasing evidence suggests the involvement of autophagy as…
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Keywords:
microscopy;
ctsd cathepsin;
ctsd;
snca ... See more keywords
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Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0873-5
Abstract: Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple system atrophy (MSA). We have further investigated our recent finding of somatic SNCA (α-synuclein) copy number variants (CNVs,…
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Keywords:
snca;
msa;
single cell;
somatic cnvs ... See more keywords
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Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0275235
Abstract: Parkinson’s disease is the second most common age-related, neurodegenerative disease. A small collection of genes has been linked to Parkinson’s disease including LRRK2, SAT1, and SNCA, the latter of which encodes the protein alpha-synuclein that…
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Keywords:
disease;
pumilio proteins;
parkinson disease;
snca ... See more keywords