Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.

ABSTRACT: Lafora disease (LD) is a fatal rare type of progressive myoclonus epilepsy that appears during early adolescence. The disease is caused by mutations in EPM2A or EPM2B genes, which encode laforin, a glucan phosphatase, and malin, an E3-ubiquitin ligase, respectively. Although the exact roles of laforin and malin are still not well understood, it is known that they work as a complex in which laforin recruits targets that will be ubiquitinated by malin. Recently, we suggested that the type of epilepsy that accompanies LD could be due to deficiencies in the function of the astrocytic glutamate transporter GLT-1. We described that astrocytes from LD mouse models presented decreased levels of GLT-1 at the plasma membrane, leading to increased levels of glutamate in the brain parenchyma. In this

SUBMITTER: Perez-Jimenez E 

PROVIDER: S-EPMC8445078 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature