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@ARTICLE{deBoni:270708,
author = {de Boni, Laura and Wallis, Amber and Hays Watson, Aurelia
and Ruiz-Riquelme, Alejandro and Leyland, Louise-Ann and
Bourinaris, Thomas and Hannaway, Naomi and Wüllner, Ullrich
and Peters, Oliver and Priller, Josef and Falkenburger,
Björn H and Wiltfang, Jens and Bähr, Mathias and Zerr,
Inga and Bürger, Katharina and Perneczky, Robert and
Teipel, Stefan and Löhle, Matthias and Hermann, Wiebke and
Schott, Björn-Hendrik and Brockmann, Kathrin and Spottke,
Annika and Haustein, Katrin and Breuer, Peter and Houlden,
Henry and Weil, Rimona S and Bartels, Tim},
title = {{A}ggregation-resistant alpha-synuclein tetramers are
reduced in the blood of {P}arkinson's patients.},
journal = {EMBO molecular medicine},
volume = {16},
number = {7},
issn = {1757-4676},
address = {Heidelberg},
publisher = {EMBO Press},
reportid = {DZNE-2024-00880},
pages = {1657 - 1674},
year = {2024},
abstract = {Synucleinopathies such as Parkinson's disease (PD) are
defined by the accumulation and aggregation of the
α-synuclein protein in neurons, glia and other tissues. We
have previously shown that destabilization of α-synuclein
tetramers is associated with familial PD due to SNCA
mutations and demonstrated brain-region specific alterations
of α-synuclein multimers in sporadic PD patients following
the classical Braak spreading theory. In this study, we
assessed relative levels of disordered and higher-ordered
multimeric forms of cytosolic α-synuclein in blood from
familial PD with G51D mutations and sporadic PD patients. We
used an adapted in vitro-cross-linking protocol for human
EDTA-whole blood. The relative levels of higher-ordered
α-synuclein tetramers were diminished in blood from
familial PD and sporadic PD patients compared to controls.
Interestingly, the relative amount of α-synuclein tetramers
was already decreased in asymptomatic G51D carriers,
supporting the hypothesis that α-synuclein multimer
destabilization precedes the development of clinical PD. Our
data, therefore suggest that measuring α-synuclein
tetramers in blood may have potential as a facile biomarker
assay for early detection and quantitative tracking of PD
progression.},
keywords = {Humans / alpha-Synuclein: metabolism / alpha-Synuclein:
blood / Parkinson Disease: blood / Parkinson Disease:
metabolism / Parkinson Disease: genetics / Aged / Male /
Female / Middle Aged / Protein Multimerization / Protein
Aggregates / Parkinson’s disease (Other) / Alpha-synuclein
(Other) / Blood (Other) / Human (Other) / Parkinson’s
disease (Other) / Tetramer (Other) / alpha-Synuclein (NLM
Chemicals) / Protein Aggregates (NLM Chemicals) / SNCA
protein, human (NLM Chemicals)},
cin = {AG Wüllner / AG Peters / AG Priller / AG Falkenburger / AG
Wiltfang / Clinical Dementia Research (Göttingen) / AG Zerr
/ Clinical Research (Munich) / AG Teipel / AG Storch / AG
Fischer / AG Gasser / AG Spottke},
ddc = {610},
cid = {I:(DE-2719)1011302 / I:(DE-2719)5000000 /
I:(DE-2719)5000007 / I:(DE-2719)1710012 / I:(DE-2719)1410006
/ I:(DE-2719)1440015 / I:(DE-2719)1440011-1 /
I:(DE-2719)1111015 / I:(DE-2719)1510100 / I:(DE-2719)5000014
/ I:(DE-2719)1410002 / I:(DE-2719)1210000 /
I:(DE-2719)1011103},
pnm = {353 - Clinical and Health Care Research (POF4-353) / 352 -
Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC11250827},
pubmed = {pmid:38839930},
doi = {10.1038/s44321-024-00083-5},
url = {https://pub.dzne.de/record/270708},
}