Analysis of kidney from methylmalonyl-CoA mutase (Mut)-deficient females that express Mut in hepatocytes under the control of an albumin promoter. This animal model replicates methylmalonic acidemia (MMA) kidney disease. Results provide insight into molecular mechanisms underlying MMA renal disease.
Manoli I, Sysol JR, Li L, Houillier P et al. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A 2013 Aug 13;110(33):13552-7. PMID: 23898205
