Lafora bodies in skeletal muscle are fiber type specific
Bibliographic record
Abstract
Glycogen is the largest soluble cytosolic macromolecule, containing up to 55,000 glucoses per molecule. It is formed by glycogen synthase (GS) and branching enzyme (BE), which acting coordinately lead to branching after every sixth glucose and ultimately to a spherical shape that allows solubility. Polyglucosans are malformed glycogen molecules containing much less branching. They precipitate and accumulate into polyglucosan bodies (PB). PB characterize adult polyglucosan body disease (APBD) and Lafora disease (LD). In APBD, PB form in and often obstruct axons. APBD is an axonopathy with upper and lower motor neuron signs and no epilepsy. In LD, PB, called Lafora bodies (LB), occupy neuronal perikarya and dendrites. LD is a progressive myoclonus epilepsy, with no long tract or peripheral nerve deficits. APBD is caused by BE deficiency. LD is caused by mutations in the EPM2A and EPM2B genes encoding respectively the laforin phosphatase and the malin ubiquitin E3 ligase, which regulates laforin. In LD, glycogen becomes progressively phosphorylated, a pathologic process normally prevented by laforin. The charged phosphates unfold glycogen, expose its hydrophobic regions, and lead it to precipitate. GS precipitates with glycogen, but BE does not. Subsequent extension by GS unchecked by branching would convert the glycogen to polyglucosan.1,2 The next step in LD research is to understand the basis of the progressive phosphorylation. What is known is …
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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 | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.010 | 0.004 |
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".