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Record W3094899843 · doi:10.1038/s41380-020-00926-w

Alzheimer’s genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner

2020· article· en· W3094899843 on OpenAlexafffund
Fanny Eysert, Audrey Coulon, Emmanuelle Boscher, Anaїs-Camille Vreulx, Amandine Flaig, Tiago Mendes, Sandrine Hughes, Benjamin Grenier‐Boley, Xavier Hanoulle, Florie Demiautte, Charlotte Bauer, Mikael Marttinen, Mari Takalo, Philippe Amouyel, Shruti Desai, Ian Pike, Mikko Hiltunen, Frédéric Checler, Mélissa Farinelli, Charlotte Delay, Nicolas Malmanche, Sébastien Hébert, Julie Dumont, Devrim Kilinc, Jean‐Charles Lambert, Julien Chapuis

Bibliographic record

VenueMolecular Psychiatry · 2020
Typearticle
Languageen
FieldMedicine
TopicAlzheimer's disease research and treatments
Canadian institutionsUniversité LavalCentre hospitalier de l'Université Laval
FundersFONDATION ALZHEIMERAgence Nationale de la RechercheDevelopment of Innovative Strategies for a Transdisciplinary approach to ALZheimer's diseaseInstitut National de la Santé et de la Recherche MédicaleFondation Vaincre AlzheimerEquipexCanadian Institutes of Health ResearchConseil Régional Hauts-de-FranceSigrid Juséliuksen SäätiöEU Joint Programme – Neurodegenerative Disease ResearchItä-Suomen Yliopisto
KeywordsLong-term potentiationNeuroscienceSynaptic plasticityBiologymicroRNAContext (archaeology)Alzheimer's diseaseNeuroplasticityNeurodegenerationAxonGeneCell biologyGeneticsDiseaseMedicineInternal medicineReceptor

Abstract

fetched live from OpenAlex

Although APP metabolism is being intensively investigated, a large fraction of its modulators is yet to be characterized. In this context, we combined two genome-wide high-content screenings to assess the functional impact of miRNAs and genes on APP metabolism and the signaling pathways involved. This approach highlighted the involvement of FERMT2 (or Kindlin-2), a genetic risk factor of Alzheimer's disease (AD), as a potential key modulator of axon guidance, a neuronal process that depends on the regulation of APP metabolism. We found that FERMT2 directly interacts with APP to modulate its metabolism, and that FERMT2 underexpression impacts axonal growth, synaptic connectivity, and long-term potentiation in an APP-dependent manner. Last, the rs7143400-T allele, which is associated with an increased AD risk and localized within the 3'UTR of FERMT2, induced a downregulation of FERMT2 expression through binding of miR-4504 among others. This miRNA is mainly expressed in neurons and significantly overexpressed in AD brains compared to controls. Altogether, our data provide strong evidence for a detrimental effect of FERMT2 underexpression in neurons and insight into how this may influence AD pathogenesis.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.015
Threshold uncertainty score1.000

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 head0.022
GPT teacher head0.285
Teacher spread0.263 · 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.

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

Citations59
Published2020
Admission routes2
Has abstractyes

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