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Paper · 39754192

Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease.

Valdes P and 10 others. Alzheimers Res Ther, 2025. Cited by 14 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease. Papers, record 39754192. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/39754192

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease.
PubMed
Journal
Alzheimers Res Ther
PubMed
Year
2025
PubMed
Publication types
Journal Article
PubMed
Citations, by iCite
14
iCite
Relative citation ratio, by iCite
3.96, provisional
iCite
Revised in PubMed
2026-06-03
PubMed

Authors11

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1Valdes PPhoebehttps://orcid.org/0000-0003-3165-7235
2Caldwell ABAndrew Bhttps://orcid.org/0000-0002-2850-7677
3Liu QQinghttps://orcid.org/0000-0002-8845-1417
4Fitzgerald MQMichael Qhttps://orcid.org/0000-0002-3693-0854
5Ramachandran SSrinivasanhttps://orcid.org/0000-0002-4912-0279
6Karch CMCeleste Mhttps://orcid.org/0000-0002-6854-5547
7Dominantly Inherited Alzheimer Network (DIAN)Group
8Galasko DRDouglas Rhttps://orcid.org/0000-0001-6195-3241
9Yuan SHShauna Hhttps://orcid.org/0000-0003-4058-4146
10Wagner SLSteven Lhttps://orcid.org/0000-0003-4674-9474

1 to 10 of 11Source PubMed

See all 11 authors

Topics11

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Alzheimer DiseaseMajor topic
Presenilin-1Major topic
Presenilin-2Major topic
Amyloid beta-Protein PrecursorMajor topic
MutationMajor topic
Humans
Middle Aged
Neurons
Male
Female
Multiomics

Source PubMed

Grants18

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes itAgencyCountryNIH projectStated bySource
U01 CA198941NCI NIH HHSUnited StatesU01CA198941PubMed and NIHNIH RePORTER
P50 AGO5131 , U01 NS 074501-05, R01 LM012595 , OT2 OD030544, U01 CA198941, U01 DK097430, R01 HD084633 , R01 HL106579-07,NIH HHSUnited StatesPubMedPubMed
STC CCF-0939370National Science FoundationPubMedPubMed
U01 DK097430NIDDK NIH HHSUnited StatesU01DK097430PubMed and NIHNIH RePORTER
U01 NS074501NINDS NIH HHSUnited StatesU01NS074501PubMed and NIHNIH RePORTER
OT2 OD030544NIH HHSUnited StatesOT2OD030544PubMed and NIHNIH RePORTER
NIRG-14-322164Alzheimer's AssociationUnited StatesPubMedPubMed
RF1 AG084030NIA NIH HHSUnited StatesRF1AG084030PubMedNIH RePORTER
U19 AG032438NIA NIH HHSUnited StatesU19AG032438PubMed and NIHNIH RePORTER
P50 AG005131NIA NIH HHSUnited StatesP50AG005131PubMed and NIHNIH RePORTER

1 to 10 of 18

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Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References159

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

OrderPMIDTitleJournalYearIn PapersSource
127,354,364A PBX1 transcriptional network controls dopaminergic neuron development and is impaired in Parkinson's disease.EMBO J2016https://conductscience.org/library/papers/27354364PubMed
237,849,634Endotype Characterization Reveals Mechanistic Differences Across Brain Regions in Sporadic Alzheimer's Disease.J Alzheimers Dis Rep2023https://conductscience.org/library/papers/37849634PubMed
335,012,639Artificial intelligence framework identifies candidate targets for drug repurposing in Alzheimer's disease.Alzheimers Res Ther2022https://conductscience.org/library/papers/35012639PubMed
434,979,259Primary cilia and ciliary signaling pathways in aging and age-related brain disorders.Neurobiol Dis2022https://conductscience.org/library/papers/34979259PubMed
527,293,189Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.Cell2016https://conductscience.org/library/papers/27293189PubMed
622,080,153Nucleus-encoded regulators of mitochondrial function: integration of respiratory chain expression, nutrient sensing and metabolic stress.Biochim Biophys Acta2012https://conductscience.org/library/papers/22080153PubMed
736,544,231Spatially resolved transcriptomics reveals genes associated with the vulnerability of middle temporal gyrus in Alzheimer's disease.Acta Neuropathol Commun2022https://conductscience.org/library/papers/36544231PubMed
821,081,511GimmeMotifs: a de novo motif prediction pipeline for ChIP-sequencing experiments.Bioinformatics2011https://conductscience.org/library/papers/21081511PubMed
915,737,744Netrin-1 and slit-2 regulate and direct neurite growth of ventral midbrain dopaminergic neurons.Mol Cell Neurosci2005https://conductscience.org/library/papers/15737744PubMed
1031,199,868HMMRATAC: a Hidden Markov ModeleR for ATAC-seq.Nucleic Acids Res2019https://conductscience.org/library/papers/31199868PubMed

1 to 10 of 159

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Cited by12

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 14 citations.

PMIDTitleJournalYearIn PapersSource
42,984,863From developmental divergence to degenerative vulnerability: convergent molecular mechanisms linking autism spectrum disorder and Alzheimer's disease.Front Mol Neurosci2026https://conductscience.org/library/papers/42984863PubMed
42,942,089Epigenetic Mechanisms in Neurodegenerative Diseases: From Genetic Regulation to Therapeutic Potential.Int J Mol Sci2026https://conductscience.org/library/papers/42942089PubMed
42,922,412Deanna Protocol Ameliorates the Deficits in Human iPSC-Cortical Neurons Carrying Familial Alzheimer's Mutation.CNS Neurosci Ther2026https://conductscience.org/library/papers/42922412PubMed
42,620,250Multi-dimensional attention framework for personalised Alzheimer's disease progression prediction across sporadic and genetic risk cohorts.Res Sq2026https://conductscience.org/library/papers/42620250PubMed
42,334,726A Humanized Knock-in Mouse Model of the PSEN1 V97L Mutation from a Major Chinese Alzheimer's Disease Pedigree Reveals Early Neuroinflammation.Neurosci Bull2026https://conductscience.org/library/papers/42334726PubMed
42,179,444Rare and novel genetic variants in sporadic and familial Alzheimer's disease: insights from the first Saudi cohort.Front Aging2026https://conductscience.org/library/papers/42179444PubMed
40,933,041Stem cell and CRISPR/Cas9 gene editing technology in Alzheimer's disease therapy: from basic research to clinical innovation.Front Genome Ed2025https://conductscience.org/library/papers/40933041PubMed
40,869,138Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.Int J Mol Sci2025https://conductscience.org/library/papers/40869138PubMed
40,776,633Planning for the future following receipt of Alzheimer's disease risk estimate among Latinos in New York City.J Alzheimers Dis2025https://conductscience.org/library/papers/40776633PubMed
40,529,145Integrating genetic and immune profiles for personalized immunotherapy in Alzheimer's disease.Front Med (Lausanne)2025https://conductscience.org/library/papers/40529145PubMed

1 to 10 of 12

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Genes7

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn GenesSource
APP351PubTator's text mininghttps://conductscience.org/library/genes/351NCBI Gene
ASCL1429PubTator's text mininghttps://conductscience.org/library/genes/429NCBI Gene
NRF14,899PubTator's text mininghttps://conductscience.org/library/genes/4899NCBI Gene
PSEN15,663PubTator's text mininghttps://conductscience.org/library/genes/5663NCBI Gene
PSEN25,664PubTator's text mininghttps://conductscience.org/library/genes/5664NCBI Gene
REST5,978PubTator's text mininghttps://conductscience.org/library/genes/5978NCBI Gene
ZIC17,545PubTator's text mininghttps://conductscience.org/library/genes/7545NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
Trials
2026-11-12
Gene search
2026-11-11
Pipelines
2026-09-18

Sources 11

  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • HGNCCC0
  • iCiteCC BY 4.0
  • NCBI GenePublic domain (US government)
  • NIH RePORTER's grant and paper linksPublic domain
  • Open TargetsCC0 1.0
  • PMC's ID filePublic domain (US government)
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • HGNCCC0: https://www.genenames.org/about/license/
  • iCiteCC BY 4.0
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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