Assessing the biological activity of the glucan phosphatase laforin

Carlos Romá-Mateo, Madushi Raththagala, Mathew S. Gentry, Pascual Sanz

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Glucan phosphatases are a recently discovered family of enzymes that dephosphorylate either starch or glycogen and are essential for proper starch metabolism in plants and glycogen metabolism in humans. Mutations in the gene encoding the only human glucan phosphatase, laforin, result in the fatal, neurodegenerative, epilepsy known as Lafora disease. Here, we describe phosphatase assays to assess both generic laforin phosphatase activity and laforin’s unique glycogen phosphatase activity.

Original languageEnglish
Title of host publicationMethods in Molecular Biology
Pages107-119
Number of pages13
DOIs
StatePublished - 2016

Publication series

NameMethods in Molecular Biology
Volume1447
ISSN (Print)1064-3745

Bibliographical note

Publisher Copyright:
© Springer Science+Business Media New York 2016.

Funding

This study was supported by grants from the Spanish Ministry of Education and Science SAF2014-54604-C3-1-R (P.S.), Generalitat Valenciana (PrometeoII/2014/029) (P.S.), NIH Grants R01NS070899 (M.S.G.), P20GM103486 (M.S.G.), Mizutani Foundation for Glycoscience Award (M.S.G.), and NSF Grant IIA-1355438 (M.S.G.). C.R.-M. was supported by the Saving Lives at Birth Consortium.

FundersFunder number
National Science Foundation (NSF)IIA-1355438
National Institutes of Health (NIH)R01NS070899
National Institute of General Medical SciencesP20GM103486
Mizutani Foundation for Glycoscience
Ministerio de Educación, Cultura y DeporteSAF2014-54604-C3-1-R
Generalitat ValencianaPrometeoII/2014/029

    Keywords

    • Dual-specificity phosphatase
    • Glycogen
    • Lafora disease

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics

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