GEO DataSets

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.

Organism:

Mus musculus

Type:

Expression profiling by array, transformed count, 3 genotype/variation sets

Platform:

GPL6246

Series:

GSE41044

12 Samples

Download data: CEL

(Submitter supplied) Isolated methylmalonic acidemia (MMA) is a pleiotropic enzymatic defect of branched-chain amino acid oxidation most commonly caused by deficiency of methylmalonyl-CoA mutase (MUT). End stage renal disease (ESRD) is emerging as an inevitable disease-related complication, recalcitrant to conventional therapies and liver transplantation. To establish a viable model of MMA-associated renal disease, methylmalonyl-CoA mutase (Mut) was expressed in the liver of Mut -/- mice as a stable transgene under the control of an albumin (INS-Alb-Mut) promoter. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS4839

Platform:

GPL6246

12 Samples

Download data: CEL

(Submitter supplied) Gene expression from 2 livers and 2 hearts from mouse Mut-ko/ki (MUT p.M700K) described in Forny et al JBC 2016 and 3 livers, 2 hearts from littermate controls

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL23038

9 Samples

Download data: CEL, TXT

(Submitter supplied) Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl ̶ coenzyme A mutase (MUT). How MUT deficiency triggers mitochondrial alterations and cell damage remains unknown, preventing the development of disease-modifying therapies. To assess the effect of MUT deficiency on gene expression we investigated the transcriptome of in kidney cells derived from healthy controls or patients with MMA who harbor inactivating mutations in MUT. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

6 Samples

Download data: CEL