GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

ABSTRACT:

Objective

Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched glycogen aggregates called polyglucosan bodies in the nervous system. There are presently no treatments for APBD. Here, we test whether downregulation of glycogen synthesis is therapeutic in a mouse model of the disease.

Methods

We characterized the effects of knocking out two pro-glycogenic proteins in an APBD mouse model. APBD mice were crossed with mice deficient in glycogen synthase (GYS1), or mice deficient in protein phosphatase 1 regulatory subunit 3C (PPP1R3C), a protein involved in the activation of GYS1. Phenotypic a

SUBMITTER: Chown EE 

PROVIDER: S-EPMC7664254 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature