Structural and functional studies of Sacsin
Bibliographic record
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. It was first described in the French-Canadian population in 1978 by JP Bouchard, but ARSACS cases have since been found worldwide. The SACS gene codes for Sacsin, a 520kDa protein, which localizes in the cytoplasm, close to the mitochondria. Sacsin is composed of an N-terminal ubiquitin-like domain, which binds the proteasome, followed by three Sacsin repeat regions (SRR), a DnaJ domain, and at the C-terminus a nucleotide-binding HEPN domain, which mediates dimerization. While over 120 mutations in Sacsin are known to cause disease, the cellular function of the protein remains unclear. We recently crystallized the ATPase-like fragment of the first SRR domain from human Sacsin. The crystals diffract to better than 2A resolution and the structure determination is in progress. Future studies will focus on larger fragments of Sacsin as well as biochemical studies to investigate the cellular function of the protein.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".