P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.

ABSTRACT: Laforin and Malin are two proteins that are encoded by the genes EPM2A and EPM2B, respectively. Laforin is a glucan phosphatase and Malin is an E3-ubiquitin ligase, and these two proteins function as a complex. Mutations occurring at the level of one of the two genes lead to the accumulation of an aberrant form of glycogen meant to cluster in polyglucosans that go under the name of Lafora bodies. Individuals affected by the appearance of these polyglucosans, especially at the cerebral level, experience progressive neurodegeneration and several episodes of epilepsy leading to the manifestation of a fatal form of a rare disease called Lafora disease (LD), for which, to date, no treatment is available. Despite the different dysfunctions described for this disease, many molecular aspects still

SUBMITTER: Kumarasinghe L 

PROVIDER: S-EPMC10682699 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature