MétaCan
Menu
Back to cohort
Record W2041174212 · doi:10.1073/pnas.0912257106

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

2009· article· en· W2041174212 on OpenAlexaff
Rodney C. Samaco, Caleigh Mandel‐Brehm, Hsiao-Tuan Chao, Christopher Ward, Sharyl L. Fyffe-Maricich, Jun Ren, Keith Hyland, Christina Thaller, Stephen M. Maricich, Peter Humphreys, John J. Greer, Alan K. Percy, Daniel G. Glaze, Huda Y. Zoghbi, Jeffrey L. Neul

Bibliographic record

VenueProceedings of the National Academy of Sciences · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsChildren's Hospital of Eastern OntarioUniversity of Alberta
FundersNational Institute of Neurological Disorders and StrokeNational Institute of Mental HealthIntellectual and Developmental Disabilities Research CenterNational Institutes of HealthSimons FoundationInternational Rett Syndrome FoundationEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentAutism SpeaksHoward Hughes Medical Institute
KeywordsMECP2NeurotransmitterSerotonergicRett syndromeNeuroscienceDopaminergicBiologyDopamineEndocrinologySerotoninInternal medicinePhenotypeCentral nervous systemMedicineGeneticsReceptor

Abstract

fetched live from OpenAlex

Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Because several of these abnormalities occur in other disease states associated with alterations in aminergic neurotransmitters, we investigated the contribution of such alterations to RTT pathogenesis. We found that both individuals with RTT and Mecp2-null mice have lower-than-normal levels of aminergic metabolites and content. Deleting Mecp2 from either TH-positive dopaminergic and noradrenergic neurons or PET1-positive serotonergic neurons in mice decreased corresponding neurotransmitter concentration and specific phenotypes, likely through MeCP2 regulation of rate-limiting enzymes involved in aminergic neurotransmitter production. These data support a cell-autonomous, MeCP2-dependent mechanism for the regulation of aminergic neurotransmitter synthesis contributing to unique behavioral phenotypes.

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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.004

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.024
GPT teacher head0.262
Teacher spread0.238 · 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 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

Citations255
Published2009
Admission routes1
Has abstractyes

Explore more

Same venueProceedings of the National Academy of SciencesSame topicGenetics and Neurodevelopmental DisordersFrench-language works237,207