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Laforin, the most common protein mutated in Lafora disease, regulates autophagy

✍ Scribed by Aguado, C.; Sarkar, S.; Korolchuk, V. I.; Criado, O.; Vernia, S.; Boya, P.; Sanz, P.; de Cordoba, S. R.; Knecht, E.; Rubinsztein, D. C.

Book ID
121647141
Publisher
Oxford University Press
Year
2010
Tongue
English
Weight
420 KB
Volume
19
Category
Article
ISSN
0964-6906

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Lafora disease in the Indian population:
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin
✍ Shweta Singh; Parthasarathy Satishchandra; Susarla Krishna Shankar; Subramaniam πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 344 KB

## Communicated by Claude FerΓ©c Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive progressive myoclonus epilepsy. LD is more common among geographic isolates and in populations with a higher rate of consanguinity. Mutations in two genes, EPM2A encoding laforin phosphatase, a