Article
The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
The Journal of biological chemistry - 1 Feb 2026
Brewer M Kathryn, Donohue Katherine J, Singh Pankaj K, Raththagala Madushi, Simmons Zoe R, Wayne Jeremiah L, Li Sheng, Viana Rosa, Segvich Dyann M, Contreras Christopher J, Cantrell Alex R, Sanz Pascual, Sun Ramon C, Vander Kooi Craig W, Roach Peter J, DePaoli-Roach Anna, Gentry Matthew S
Abstract excerpt
Laforin is the only known glycogen phosphatase. Mutations in the laforin gene lead to the fatal childhood dementia and progressive myoclonic epilepsy known as Lafora disease (LD). A hallmark of LD is aberrant, cytoplasmic, glycogen-like aggregates known as Lafora bodies. Surprisingly, recent reports indicate that overexpression of a phosphatase-deficient laforin mutant, with the catalytic cysteine mutated to...
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