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@ARTICLE{FloresLen:281351,
author = {Flores-León, Manuel and Outeiro, Tiago F},
title = {{E}xpanding our understanding of synucleinopathies:
proteinopathy, proteinopenia, and lipidopathy.},
journal = {The FEBS journal},
volume = {292},
number = {18},
issn = {0014-2956},
address = {Oxford [u.a.]},
publisher = {Wiley-Blackwell},
reportid = {DZNE-2025-01098},
pages = {4774 - 4788},
year = {2025},
abstract = {A possible consequence of the process of protein
aggregation in neurodegenerative diseases is the depletion
of soluble protein species (proteinopenia), which may, at
least in some cases, reduce protein function/activity. This
concept, which is often overlooked, may play a role in
synucleinopathies such as Parkinson's disease (PD), and
dementia with Lewy bodies (DLB), where the protein
α-synuclein (aSyn) is known to accumulate in insoluble
inclusions. aSyn is at the crossroads between cellular
proteostasis and lipidostasis networks and, therefore, we
must be aware of the complexity we face when we try to
understand the molecular basis of synucleinopathies.
Importantly, aSyn and β-glucocerebrosidase (GCase), a
sphingolipid hydrolase also strongly implicated in PD and
DLB, are connected to lipid biology and to protein quality
control function. Thus, changes in the normal relationship
between these two proteins may shift the balance in the cell
and lead to proteinopathy and/or proteinopenia, while also
affecting lipidostasis of cells in the brain. Thus,
pathological mechanisms that are a consequence of (a)
loss-of-function, (b) gain-of-toxic function, and (c)
alterations in lipidostasis need to be carefully analyzed
and integrated in our study of the molecular underpinnings
of neurodegenerative mechanisms. Here, we highlight
implications of the depletion of the soluble form of aSyn,
and of GCase, and discuss how state-of-the-art 'omics
technologies' could be deployed to assist in the clinical
assessment of synucleinopathies.},
subtyp = {Review Article},
keywords = {Humans / alpha-Synuclein: metabolism / alpha-Synuclein:
genetics / Synucleinopathies: metabolism /
Synucleinopathies: pathology / Synucleinopathies: genetics /
Parkinson Disease: metabolism / Parkinson Disease: pathology
/ Parkinson Disease: genetics / Glucosylceramidase: genetics
/ Glucosylceramidase: metabolism / Lipid Metabolism /
Animals / Proteostasis: genetics / Lewy Body Disease:
metabolism / Lewy Body Disease: pathology / Lewy Body
Disease: genetics / Parkinson's disease (Other) /
alpha‐synuclein (Other) / lipids (Other) / protein
aggregation (Other) / synucleinopathy (Other) /
transcription (Other) / alpha-Synuclein (NLM Chemicals) /
Glucosylceramidase (NLM Chemicals)},
cin = {AG Fischer},
ddc = {610},
cid = {I:(DE-2719)1410002},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39996490},
pmc = {pmc:PMC12443472},
doi = {10.1111/febs.70011},
url = {https://pub.dzne.de/record/281351},
}