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Record W2342749204 · doi:10.1038/mp.2016.59

Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology

2016· article· en· W2342749204 on OpenAlexfundno aff
Pierre Dourlen, Francisco-José Fernández-Gómez, Clément Dupont, Benjamin Grenier‐Boley, Céline Bellenguez, Hélène Obriot, Raphaëlle Caillierez, Yoann Sottejeau, Julien Chapuis, Alexis Bretteville, Farida Abdelfettah, C. Delay, Nicolas Malmanche, Hilkka Soininen, Mikko Hiltunen, Philippe Amouyel, Nicolas Sergeant, Luc Buée, Bart Dermaut

Bibliographic record

VenueMolecular Psychiatry · 2016
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsnot available
FundersNational Institute of General Medical SciencesKuopion Yliopistollinen SairaalaSigrid Juséliuksen SäätiöFondation pour la Recherche MédicaleAcademy of FinlandItä-Suomen YliopistoAgence Nationale de la RechercheInstitute of GeneticsNational Institutes of HealthDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseCentre National de la Recherche ScientifiqueBelgian Federal Science Policy OfficeAlzheimer's Association
KeywordsBiologyErythropoietin-producing hepatocellular (Eph) receptorGenetically modified mouseFocal adhesionAlzheimer's diseaseNeurotoxicityNeurodegenerationGeneticsIn vivoProgressive supranuclear palsyTransgeneGeneToxicityNeuroscienceCell biologyPathologyKinaseMedicineSignal transductionDiseaseAtrophyInternal medicine

Abstract

fetched live from OpenAlex

A recent genome-wide association meta-analysis for Alzheimer's disease (AD) identified 19 risk loci (in addition to APOE) in which the functional genes are unknown. Using Drosophila, we screened 296 constructs targeting orthologs of 54 candidate risk genes within these loci for their ability to modify Tau neurotoxicity by quantifying the size of >6000 eyes. Besides Drosophila Amph (ortholog of BIN1), which we previously implicated in Tau pathology, we identified p130CAS (CASS4), Eph (EPHA1), Fak (PTK2B) and Rab3-GEF (MADD) as Tau toxicity modulators. Of these, the focal adhesion kinase Fak behaved as a strong Tau toxicity suppressor in both the eye and an independent focal adhesion-related wing blister assay. Accordingly, the human Tau and PTK2B proteins biochemically interacted in vitro and PTK2B co-localized with hyperphosphorylated and oligomeric Tau in progressive pathological stages in the brains of AD patients and transgenic Tau mice. These data indicate that PTK2B acts as an early marker and in vivo modulator of Tau toxicity.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.010
Threshold uncertainty score0.430

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.285
Teacher spread0.270 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations119
Published2016
Admission routes1
Has abstractyes

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