ALTERATIONS OF SACSIN RNA-BINDING PROPERTIES ARE CONNECTED TO THE DEVELOPMENT OF ARSACS
Bibliographic record
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease mainly characterized by cerebellar ataxia, progressive spasticity and peripheral neuropathy. It is a childhood onset disease caused by point mutations in the SACS gene (13q11) that codifies the protein SACSIN. The loss of SACSIN expression has been reported to affect the proper structure and functions of the neuronal cytoskeleton and mitochondria. However, it is still under debate whether this is a cause or a consequence. SACSIN is a multidomain protein that was suggested to bind to RNAs. However, the RNA-binding properties of SACSIN have never been investigated. Thus, we decided to investigate whether the putative alteration of SACSIN RNA-binding ability can be at the basis of the molecular mechanisms that lead to ARSACS etiology. To this extent, we are currently characterizing the structural and stability properties of SACSIN domains, as well as its RNA-binding ability through in silico, in vitro and in cells strategies. We aim at unveiling key molecular aspects that can eventually be exploited to restore SACSIN altered RNA-binding properties as innovative strategies to treat ARSACS patients
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.005 | 0.018 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.005 | 0.010 |
| Science and technology studies | 0.002 | 0.012 |
| Scholarly communication | 0.008 | 0.012 |
| Open science | 0.011 | 0.003 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; both teacher heads agree on what is shown here.
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".