A bioassay for Lafora disease and laforin glucan phosphatase activity.

ABSTRACT:

Objectives

Lafora disease is a rare yet invariably fatal form of progressive neurodegenerative epilepsy resulting from mutations in the phosphatase laforin. Several therapeutic options for Lafora disease patients are currently being explored, and these therapies would benefit from a biochemical means of assessing functional laforin activity following treatment. To date, only clinical outcomes such as decreases in seizure frequency and severity have been used to indicate success of epilepsy treatment. However, these qualitative measures exhibit variability and must be assessed over long periods of time. In this work, we detail a simple and sensitive bioassay that can be used for the detection of functional endogenous laforin from human and mouse tissue.

Design and methods

We

SUBMITTER: Sherwood AR 

PROVIDER: S-EPMC3864130 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature