GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Erin E ChownPeixiang WangXiaochu ZhaoJustin J CrowderJordan W StroberMitchell A SullivanYunlin XueCody S BennettAmi M PerriBret M EversPeter J RoachAnna A Depaoli-RoachH Orhan AkmanBartholomew A PedersonBerge A Minassian

Published in: Annals of clinical and translational neurology (2020)

GYS1 and PPP1R3C are effective therapeutic targets in the APBD mouse model. These findings represent a critical step toward the development of a treatment for APBD and potentially other glycogen storage disease type IV patients.

Keyphrases

mouse model
end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
patient reported outcomes
patient reported
smoking cessation