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Record W3167728079 · doi:10.1016/j.celrep.2021.109189

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein

2021· article· en· W3167728079 on OpenAlexfundno aff
Eleanna Kara, Alessandro Crimi, Anne Wiedmer, Marc Emmenegger, C. Manzoni, Sara Bandrés‐Ciga, Karishma D’Sa, Regina H. Reynolds, Juan A. Botía, Marco Losa, Veronika Lysenko, Manfredi Carta, Daniel Heinzer, Merve Avar, Andra Chincisan, Cornelis Blauwendraat, Sonia García-Ruiz, Daniel Pease, Lorène Mottier, Alessandra Carrella, Dezirae Beck-Schneider, Andreia D. Magalhães, Caroline Aemisegger, Alexandre Theocharides, Zhanyun Fan, Jordan D. Marks, Sarah C. Hopp, Andrey Y. Abramov, Patrick A. Lewis, Mina Ryten, John Hardy, Bradley T. Hyman, Adriano Aguzzi

Bibliographic record

VenueCell Reports · 2021
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsnot available
FundersFP7 People: Marie-Curie ActionsNational Institute on AgingUCLH Biomedical Research CentreJapan Science and Technology AgencyTau ConsortiumUK Dementia Research InstituteUniversity College London Hospitals NHS Foundation TrustNOMIS StiftungAlzheimer’s Research UKSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungAlzheimer's AssociationGreat Ormond Street Hospital CharityParkinson's UKNational Institutes of HealthRosetrees TrustAbbVieEuropean CommissionNational Institute of Environmental Health SciencesEuropean Research CouncilDolby Family VenturesWeston Brain InstituteAlzheimer's SocietyUniversity College LondonWellcome TrustBiogenNovartisJPB FoundationUK Research and InnovationEuropean Molecular Biology OrganizationMichael J. Fox Foundation for Parkinson's ResearchUniversität ZürichHuman Frontier Science ProgramMedical Research CouncilCure Alzheimer's FundNational Institute of Neurological Disorders and StrokeTakeda Pharmaceutical CompanyU.S. Department of JusticeFundación SénecaH2020 European Research CouncilU.S. Department of Health and Human Services
KeywordsBiologyCellComputational biologyGeneticsCell biology

Abstract

fetched live from OpenAlex

Neuropathological and experimental evidence suggests that the cell-to-cell transfer of α-synuclein has an important role in the pathogenesis of Parkinson's disease (PD). However, the mechanism underlying this phenomenon is not fully understood. We undertook a small interfering RNA (siRNA), genome-wide screen to identify genes regulating the cell-to-cell transfer of α-synuclein. A genetically encoded reporter, GFP-2A-αSynuclein-RFP, suitable for separating donor and recipient cells, was transiently transfected into HEK cells stably overexpressing α-synuclein. We find that 38 genes regulate the transfer of α-synuclein-RFP, one of which is ITGA8, a candidate gene identified through a recent PD genome-wide association study (GWAS). Weighted gene co-expression network analysis (WGCNA) and weighted protein-protein network interaction analysis (WPPNIA) show that those hits cluster in networks that include known PD genes more frequently than expected by random chance. The findings expand our understanding of the mechanism of α-synuclein spread.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.013
GPT teacher head0.229
Teacher spread0.216 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations13
Published2021
Admission routes1
Has abstractyes

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