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Record W4244137568 · doi:10.1242/dmm.001099

TRANSLATIONAL IMPACT

2008· article· en· W4244137568 on OpenAlexfundno aff

Bibliographic record

VenueDisease Models & Mechanisms · 2008
Typearticle
Languageen
FieldNeuroscience
TopicNuclear Receptors and Signaling
Canadian institutionsnot available
FundersCanadian Institutes of Health ResearchMedical Research CouncilParkinson's UKWellcome Trust
KeywordsBiology

Abstract

fetched live from OpenAlex

Parkinson’s disease (PD) is a neurodegenerative disease typified by severe movement and muscle deterioration that affects approximately six million people worldwide. The average age of onset is 60, and the incidence of PD is expected to increase as the world’s elderly population grows. Despite ongoing clinical and basic science research efforts, the etiology and pathogenetic mechanisms of PD remain unclear. Scientists are beginning to identify causative genes, including mutations in genes important to mitochondrial function. Mitochondrial dysfunction is strongly implicated in sporadic PD and the mitochondrial-associated proteins Pink1, Parkin and Omi/HtrA2 (Omi), have genetic mutations linked with PD pathogenesis. Pink1, Parkin and Omi are enzymes that respond to cell stress and death processes, and are imported into mitochondria where they promote mitochondrial integrity and provide protection against toxic insults.In this report, the authors use the fruit fly Drosophila melanogaster to uncover a new gene that may be a key regulator of mitochondrial dysfunction during the pathogenesis of PD, by influencing the Pink1/Parkin pathway. Using a combination of genetic and biochemical approaches, the authors identified two proteases that influence this pathway. They identify Omi, as a mitochondrial protease downstream of Pink1, and another mitochondrial protease called Rhomboid-7. They show that Rhomboid-7 is necessary to cleave the precursor forms of Pink1 and Omi – a process that regulates their localization. This finding should be relevant to humans, since Rhomboid-7 is conserved in humans, where it is called PARL and is known to cleave mitochondrial proteins. The authors report that the protease activity of Rhomboid-7 is required to process the initially mitochondrial-membrane tethered form of both Pink and Omi into their soluble forms. This Rhomboid-7-dependent cleavage is necessary for the relocalization of Pink and Omi, and may affect their overall function and, consequently, mitochondrial integrity.This paper suggests that the mitochondrial rhomboid protease Rhomboid-7 regulates the function and localization of Pink1 and Omi by cleaving their inner membrane tethering transmembrane domains, allowing these enzymes to be released into the mitochondrial intermembrane space and cytoplasm. If the human mitochondrial rhomboid protease, PARL, regulates human mitochondrial proteins during PD pathogenesis in this way, then PARL should offer a novel therapeutic target. Other proteases, like PARL, are effective disease drug targets, owing to the effectiveness of bioactive small molecules in selectively activating or inhibiting their proteolytic function.

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 categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.571
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

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

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 head0.069
GPT teacher head0.272
Teacher spread0.203 · 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.

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
Published2008
Admission routes1
Has abstractyes

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