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Record W1966812710 · doi:10.1097/mol.0b013e3283453e69

Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

2011· review· en· W1966812710 on OpenAlex
Jean E. Vance, Kyle Peake

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueCurrent Opinion in Lipidology · 2011
Typereview
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsUniversity of Alberta
FundersNatural Sciences and Engineering Research Council of CanadaCanadian Institutes of Health Research
KeywordsNPC1EndosomeEndocytosisNiemann–Pick disease, type CCholesterolNeurodegenerationNiemann–Pick diseaseCyclodextrinCell biologyChemistryBiologyBiochemistryMedicineDiseaseInternal medicineReceptor

Abstract

fetched live from OpenAlex

PURPOSE OF REVIEW: This review summarizes the recent findings on the mechanism of action of the Niemann-Pick type C (NPC) proteins and their bypass by cyclodextrin. RECENT FINDINGS: NPC disease is caused by dysfunction in either the NPC1 or NPC2 protein. These proteins function in the same pathway for the removal of unesterified cholesterol from late endosomes/lysosomes. In NPC-deficient cells, cholesterol derived from the endocytosis of LDLs becomes sequestered in the late endosomes/lysosomes. Recent studies have indicated that these two cholesterol-binding proteins act in tandem in mediating the egress of cholesterol from the late endosomes/lysosomes. Patches of amino acids on NPC1 and NPC2 appear to interact so that the hydrophobic transfer of cholesterol from NPC2 to NPC1 is achieved. Although no effective treatment for NPC disease is currently available, exciting new studies have shown that treatment of NPC-deficient mice with the cholesterol-binding compound, cyclodextrin, reduces the neurodegeneration and markedly extends the life span of Npc1-/- mice, suggesting a potential therapeutic approach for the treatment of individuals with NPC disease. SUMMARY: Experimental data are consistent with a model for the sequential action of the NPC1 and NPC2 proteins in moving cholesterol out of the late endosomes/lysosomes. Recent data demonstrate that treatment of NPC-deficient mice with cyclodextrin extends their life span, thereby suggesting a potential therapy for NPC patients.

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.

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: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.955
Threshold uncertainty score0.801

Codex and Gemma teacher scores by category

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

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 head0.153
GPT teacher head0.396
Teacher spread0.244 · 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