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RNAi knockdown of CLN3P gives clues to it's function (738.2)

2014· article· en· W1494268035 on OpenAlexaboutno aff
Katherine Dorminey, Eugene W. Hinderer, Amanda J. Krzysiak

Bibliographic record

VenueThe FASEB Journal · 2014
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsnot available
Fundersnot available
KeywordsBatten diseaseAutophagyGene knockdownLysosomeLipofuscinCell biologyTransmembrane proteinBiologyDiseaseLysosomal storage diseaseMutantGeneticsGeneMedicineInternal medicineBiochemistryReceptor

Abstract

fetched live from OpenAlex

Batten disease is a fatal neurodegenerative disease affecting children between the ages of five and ten years with an incidence of 2 to 4:100 000 live births in the United States and Canada. It is a type of lysosomal storage disease that causes an accumulation of lipofuscin in neuronal cells eventually leading to cellular degradation by normal physiological factors. The cause of Batten disease has been determined to be a 1.02 kb genomic deletion that mutates a gene known as CLN3, producing a mutant protein responsible for the pathology. The function this CLN3 protein has not been determined, although it has been predicted to be a transmembrane protein involved with lysosome trafficking. To aid future investigations pertaining to the pathology of Batten disease and in the development of therapies, we investigated the normal function of CLN3. Knockdown of CLN3 in HeLa cells was used to determine its role in autophagy. We determined that CLN3 has a role in cellular autophagy.

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 score0.004
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.002

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 head0.025
GPT teacher head0.302
Teacher spread0.277 · 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

Citations0
Published2014
Admission routes1
Has abstractyes

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Same venueThe FASEB JournalSame topicLysosomal Storage Disorders ResearchFrench-language works237,207