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ProteomicsMethylmalonic acidemia triggers lysosomal-autophagy dysfunctions
Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme. As matter of fact, MMA patients manifest impairment of the primary metabolic network with profound damages that involve several cell component...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD044101 | Pride
Methylmalonic acidemia Dia Hek293 
TranscriptomicsMethylMalonic Acidemia (MMA) is predicted by lipocalin-2 (LCN2) and attenuated by antioxidant therapy.
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 ...
ORGANISM(S): Mus musculus 
2013-05-01 | E-GEOD-41044 | biostudies-arrayexpress
GenomicsHormesis underlies the adaptive response in methylmalonic acidemia (MMA)
Hormesis underlies the adaptive response in methylmalonic acidemia (MMA)
PRJNA487064 | ENA
TranscriptomicsHormesis underlies the adaptive response in methylmalonic acidemia (MMA)
Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA mutase (MUT). To define the metabolic adaptations in MMA, in the chronic and acute settings, we studied a mouse model gen...
ORGANISM(S): Mus musculus 
2019-08-01 | GSE118862 | GEO
UnknownRenal growth in isolated methylmalonic acidemia.
Not available
S-EPMC4149057 | biostudies-literature
Genomics
An observational study of late-onset methylmalonic acidemia with autonomic dysfunction
PRJNA1164254 | ENA
ProteomicsSerum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
The serum for 3 MMA patients and 3 healthy subjects were used for LC-MS/MS.Quantitative proteomic profiling of serum of patients with isolated MMA by iTRAQ labeling.
ORGANISM(S): Homo sapiens (Human) 
2022-10-13 | PXD034075 | Pride
Methylmalonic acidemia Human Serum Lc-ms/ms 
UnknownMitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Not available
S-EPMC8558192 | biostudies-literature
TranscriptomicsTargeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
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 ...
ORGANISM(S): Mus musculus 
2013-05-01 | GSE41044 | GEO
UnknownMethylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.
Not available
S-EPMC9792485 | biostudies-literature
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