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Laforin in autophagy: A possible link between carbohydrate and protein in Lafora disease?

✍ Scribed by Puri, Rajat; Ganesh, Subramaniam

Book ID
120069984
Publisher
Landes Bioscience
Year
2010
Tongue
English
Weight
269 KB
Volume
6
Category
Article
ISSN
1554-8627

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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