Farah B.L.Landau D.J.Wu Y.Sinha R.A.Loh A.Bay B.-H.Koeberl D.D.Yen P.M.ANATOMYDUKE-NUS MEDICAL SCHOOL2020-01-222020-01-222017Farah B.L., Landau D.J., Wu Y., Sinha R.A., Loh A., Bay B.-H., Koeberl D.D., Yen P.M. (2017). Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia. Molecular Genetics and Metabolism 122 (3) : 95-98. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ymgme.2017.08.01310967192https://scholarbank.nus.edu.sg/handle/10635/163988GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Induction of autophagy by rapamycin also reduces this ER stress. Taken together, these results show an additional role for autophagy down-regulation in the pathogenesis of GSD Ia, and provide further justification for the use of autophagy modulators in GSD Ia. � 2017 Elsevier Inc.AutophagyER stressGlucose-6-phosphataseGlucose-6-phosphateGlycogen storage disease type IGSD IaKidneyRapamycinVon Gierke's diseaseArticle