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Record W4223645585 · doi:10.1126/sciadv.abm2094

Z-α <sub>1</sub> -antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state

2022· article· en· W4223645585 on OpenAlexaff
Joseph E. Chambers, Nikita Zubkov, Markéta Kubánková, Jonathon Nixon‐Abell, Ioanna Mela, Susana Abreu, Max Schwiening, Giulia Lavarda, Ismael López‐Duarte, Jennifer A. Dickens, Tomás Torres⊗, Clemens F. Kaminski, Liam J. Holt, Edward Avezov, James A. Huntington, Peter St George‐Hyslop, Marina K. Kuimova, Stefan J. Marciniak

Bibliographic record

VenueScience Advances · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEndoplasmic Reticulum Stress and Disease
Canadian institutionsUniversity Health Network
FundersNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteChan Zuckerberg InitiativeMedical Research CouncilPershing Square Sohn Cancer Research AllianceUniversity of OxfordNational Institutes of HealthGrifolsWellcome TrustImperial College LondonEngineering and Physical Sciences Research CouncilCambridge Institute for Medical Research, University of CambridgeUK Dementia Research InstituteAmerican Cancer Society
KeywordsCalreticulinEndoplasmic reticulumUnfolded protein responseEndoplasmic-reticulum-associated protein degradationCalnexinATF6Chaperone (clinical)ChemistryBiophysicsCell biologyBiologyBiochemistryMedicine

Abstract

fetched live from OpenAlex

Misfolding of secretory proteins in the endoplasmic reticulum (ER) features in many human diseases. In α 1 -antitrypsin deficiency, the pathogenic Z variant aberrantly assembles into polymers in the hepatocyte ER, leading to cirrhosis. We show that α 1 -antitrypsin polymers undergo a liquid:solid phase transition, forming a protein matrix that retards mobility of ER proteins by size-dependent molecular filtration. The Z-α 1 -antitrypsin phase transition is promoted during ER stress by an ATF6-mediated unfolded protein response. Furthermore, the ER chaperone calreticulin promotes Z-α 1 -antitrypsin solidification and increases protein matrix stiffness. Single-particle tracking reveals that solidification initiates in cells with normal ER morphology, previously assumed to represent a healthy pool. We show that Z-α 1 -antitrypsin–induced hypersensitivity to ER stress can be explained by immobilization of ER chaperones within the polymer matrix. This previously unidentified mechanism of ER dysfunction provides a template for understanding a diverse group of related proteinopathies and identifies ER chaperones as potential therapeutic targets.

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 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 score0.013
Threshold uncertainty score0.503

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
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 head0.004
GPT teacher head0.262
Teacher spread0.258 · 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.

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

Citations43
Published2022
Admission routes1
Has abstractyes

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