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@ARTICLE{Liu:278922,
author = {Liu, Haiyan and Bui, Quoc and Hassenstab, Jason and Gordon,
Brian A and Benzinger, Tammie L S and Timsina, Jigyasha and
Sung, Yun Ju and Karch, Celeste and Renton, Alan E and
Daniels, Alisha and Morris, John C and Xiong, Chengjie and
Ibanez, Laura and Perrin, Richard J and Llibre-Guerra, Jorge
J and Day, Gregory S and Supnet-Bell, Charlene and Xu, Xiong
and Berman, Sarah B and Chhatwal, Jasmeer P and Ikeuchi,
Takeshi and Kasuga, Kensaku and Niimi, Yoshiki and Huey,
Edward D and Schofield, Peter R and Brooks, William S and
Ryan, Natalie S and Jucker, Mathias and Laske, Christoph and
Levin, Johannes and Vöglein, Jonathan and Roh, Jee Hoon and
Lopera, Francisco and Bateman, Randall J and Cruchaga,
Carlos and McDade, Eric M},
collaboration = {team, For DIAN study},
title = {{U}biquitin-proteasome system in the different stages of
dominantly inherited {A}lzheimer's disease.},
journal = {Alzheimer's and dementia},
volume = {21},
number = {5},
issn = {1552-5260},
address = {Hoboken, NJ},
publisher = {Wiley},
reportid = {DZNE-2025-00648},
pages = {e70243},
year = {2025},
abstract = {This study investigated the role of the
ubiquitin-proteasome system (UPS) in dominantly inherited
Alzheimer's disease (DIAD) by examining cerebrospinal fluid
(CSF) levels of UPS proteins.The SOMAscan assay was used to
detect changes in UPS proteins in mutation carriers (MCs)
relative to disease progression; imaging and CSF biomarkers
of amyloid, tau, and neurodegeneration measures; and
Clinical Dementia Rating scale.Subtle increases in specific
ubiquitin enzymes were detected in MCs up to two decades
before symptom onset, with more pronounced elevations in
UPS-activating enzymes near symptom onset. Significant
correlations were found between UPS proteins and Alzheimer's
disease (AD) biomarkers, especially between autophagy
markers and late-stage tau biomarkers, microglia, and axonal
degeneration.The rise in UPS proteins alongside tau-related
markers suggests UPS involvement in tau neurofibrillary
tangles. Elevated CSF UPS proteins in DIAD MCs may serve as
indicators of disease progression, and may support the UPS
as a therapeutic target in AD.This study investigates the
ubiquitin-proteasome system (UPS) in Dominantly Inherited
Alzheimer's Disease (DIAD), highlighting early molecular
changes linked to disease progression. Using SOMAscan
proteomics, we identified significant UPS protein
alterations in cerebrospinal fluid of mutation carriers,
notably up to 20 years before clinical symptom onset.
Correlations between UPS protein levels and Alzheimer's
biomarkers, particularly tau and neurodegeneration markers,
suggest a strong association between UPS dysregulation and
tau pathology in DIAD. Dynamic UPS changes align with A/T
biological staging: UPS proteins were shown to increase
across Aβ/tau (A/T) groups, with largest increases in the
A+/T+ group, reinforcing their role in late-stage tau
pathology and disease progression. These findings underscore
the potential of UPS proteins as early biomarkers for
Alzheimer's disease progression and as novel therapeutic
targets, especially in tau-pathology-driven
neurodegeneration. This work contributes to understanding AD
pathogenesis, by emphasizing the importance of protein
quality control systems and by offering avenues for future
biomarker discovery and therapeutic development in
Alzheimer's disease.},
keywords = {Humans / Alzheimer Disease: genetics / Alzheimer Disease:
cerebrospinal fluid / Alzheimer Disease: pathology /
Ubiquitin: cerebrospinal fluid / Proteasome Endopeptidase
Complex: cerebrospinal fluid / Proteasome Endopeptidase
Complex: metabolism / Female / Male / Biomarkers:
cerebrospinal fluid / tau Proteins: cerebrospinal fluid /
Disease Progression / Middle Aged / Aged / Mutation:
genetics / Amyloid beta-Peptides: cerebrospinal fluid /
Adult / amyloid beta (Other) / amyloid precursor protein
(Other) / autophagy–lysosome pathway (Other) / biomarker
discovery (Other) / dominantly inherited Alzheimer's disease
(Other) / genetic mutations (Other) / neurodegeneration
(Other) / presenilin 1 (Other) / presenilin 2 (Other) /
protein aggregation (Other) / protein degradation (Other) /
proteomic analysis (Other) / proteostasis (Other) / tau
pathology (Other) / ubiquitin–proteasome system (Other) /
Ubiquitin (NLM Chemicals) / Proteasome Endopeptidase Complex
(NLM Chemicals) / Biomarkers (NLM Chemicals) / tau Proteins
(NLM Chemicals) / Amyloid beta-Peptides (NLM Chemicals)},
cin = {AG Jucker / AG Gasser / AG Levin / Clinical Research
(Munich)},
ddc = {610},
cid = {I:(DE-2719)1210001 / I:(DE-2719)1210000 /
I:(DE-2719)1111016 / I:(DE-2719)1111015},
pnm = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40411302},
pmc = {pmc:PMC12102666},
doi = {10.1002/alz.70243},
url = {https://pub.dzne.de/record/278922},
}