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Acidosis
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
Acidosis
Nitric oxide inhibits mammalian methylmalonyl-CoA mutase.
acyl-coa dehydrogenase deficiency
Vitamins and inherited human errors of metabolism.
Argininosuccinic Aciduria
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Ataxia
Effect of N2O treatment/vitamin B12 deficiency in pigs on tissue concentrations of odd-numbered, branched-chain fatty acids.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Biotinidase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Brain Ischemia
Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid.
branched-chain-2-oxoacid decarboxylase deficiency
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.
Coma
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
Coma
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Demyelinating Diseases
Cobalamin deficiency and the pathogenesis of nervous system disease.
Genetic Diseases, Inborn
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Genetic Diseases, Inborn
Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase.
Glioma
Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase, and the cobalamin cofactors in human glioma cells during nitrous oxide exposure and the subsequent recovery phase.
Glioma
Disruption of a regulatory system involving cobalamin distribution and function in a methionine-dependent human glioma cell line.
Glioma
Fully automated assay for cobalamin-dependent methylmalonyl CoA mutase.
Holocarboxylase Synthetase Deficiency
Vitamins and inherited human errors of metabolism.
Homocystinuria
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
Homocystinuria
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Homocystinuria
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
Homocystinuria
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Homocystinuria
Vitamins and inherited human errors of metabolism.
Hyperglycinemia, Nonketotic
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hyperhomocysteinemia
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Infections
Host expression of methylmalonyl-CoA mutase and tuberculosis: a missing link?
Kidney Failure, Chronic
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Maple Syrup Urine Disease
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Maple Syrup Urine Disease
Vitamins and inherited human errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Metabolic Diseases
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Metabolic Diseases
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Metabolic Diseases
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Metabolic Diseases
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Metabolic Diseases
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
Metabolic Diseases
Overexpression of human methylmalonyl CoA mutase in mice after in vivo gene transfer with asialoglycoprotein/polylysine/DNA complexes.
Metabolic Diseases
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
Metabolic Diseases
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
Metabolism, Inborn Errors
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Metabolism, Inborn Errors
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Metabolism, Inborn Errors
Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.
Metabolism, Inborn Errors
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Metabolism, Inborn Errors
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
Metabolism, Inborn Errors
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Metabolism, Inborn Errors
Vitamins and inherited human errors of metabolism.
methylmalonyl-coa mutase deficiency
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
methylmalonyl-coa mutase deficiency
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Benign methylmalonic aciduria.
methylmalonyl-coa mutase deficiency
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia.
methylmalonyl-coa mutase deficiency
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
methylmalonyl-coa mutase deficiency
Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer.
methylmalonyl-coa mutase deficiency
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
methylmalonyl-coa mutase deficiency
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
methylmalonyl-coa mutase deficiency
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
methylmalonyl-coa mutase deficiency
Liver neoplasms in methylmalonic aciduria: An emerging complication.
methylmalonyl-coa mutase deficiency
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
methylmalonyl-coa mutase deficiency
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
methylmalonyl-coa mutase deficiency
Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes.
methylmalonyl-coa mutase deficiency
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
methylmalonyl-coa mutase deficiency
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Optic neuropathy in classical methylmalonic acidemia.
methylmalonyl-coa mutase deficiency
Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
methylmalonyl-coa mutase deficiency
Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
methylmalonyl-coa mutase deficiency
Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.
methylmalonyl-coa mutase deficiency
Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
methylmalonyl-coa mutase deficiency
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
methylmalonyl-coa mutase deficiency
[Analysis of the MUT gene mutations in patients with methylmalonic acidemia.]
methylmalonyl-coa mutase deficiency
[Diagnosis and treatment of methylmalonic aciduria: a case report]
methylmalonyl-coa mutase deficiency
[Isolated methylmalonyl-CoA mutase deficiency]
methylmalonyl-coa mutase deficiency
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)]
Mitochondrial Diseases
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Mitochondrial Diseases
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Mitochondrial Diseases
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Vitamins and inherited human errors of metabolism.
Neural Tube Defects
Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.
ornithine carbamoyltransferase deficiency
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Ornithine Carbamoyltransferase Deficiency Disease
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Phenylketonurias
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Propionic Acidemia
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Propionic Acidemia
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Propionic Acidemia
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Propionic Acidemia
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Propionic Acidemia
[Diagnosis and follow up of 23 children with organic acidurias]
Renal Insufficiency
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Seizures
Creatine protects against the convulsive behavior and lactate production elicited by the intrastriatal injection of methylmalonate.
Seizures
Effectiveness of creatine monohydrate on seizures and oxidative damage induced by methylmalonate.
Tuberculosis
Functional characterization of a vitamin B12-dependent methylmalonyl pathway in Mycobacterium tuberculosis: implications for propionate metabolism during growth on fatty acids.
Tuberculosis
Host expression of methylmalonyl-CoA mutase and tuberculosis: a missing link?
Tuberculosis
Progress in Oral Vaccination against Tuberculosis in Its Main Wildlife Reservoir in Iberia, the Eurasian Wild Boar.
Tuberculosis, Bovine
Influence of methylmalonyl-CoA mutase alleles on resistance to bovine tuberculosis in the European wild boar (Sus scrofa).
udp-galactopyranose mutase deficiency
Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
udp-galactopyranose mutase deficiency
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
udp-galactopyranose mutase deficiency
[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)]
Vitamin B 12 Deficiency
Effects of low concentrations of dietary cobalt on rumen succinate concentration in sheep.
Vitamin B 12 Deficiency
Leukocyte methylmalonyl-CoA mutase. I. Vitamin B 12 deficiency.
Vitamin B 12 Deficiency
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.
Vitamin B 12 Deficiency
Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry.
Vitamin B 12 Deficiency
Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency.
Vitamin E Deficiency
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.
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E392A
site-directed mutagenesis, kcat is reduced 12fold compared to the wild-type enzyme. The mutant shows no detectable adenosylcobalamin homolysis upon binding of the physiological substrate
E392D
site-directed mutagenesis, kcat is reduced 330fold compared to the wild-type enzyme. The mutant shows no detectable adenosylcobalamin homolysis upon binding of the physiological substrate
E392Q
site-directed mutagenesis, kcat is reduced 16fold compared to the wild-type enzyme. The mutant shows no detectable adenosylcobalamin homolysis upon binding of the physiological substrate
L692P
naturally occuring mutation, from patient with methylmalonic acidemia (MMA)
R108H
naturally occuring mutation, from patient with methylmalonic acidemia (MMA)
R228Q
naturally occuring mutation, from patient with methylmalonic acidemia (MMA)
R369H
naturally occuring mutation, from patient with methylmalonic acidemia (MMA)
G623R
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
G717V
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
G94V
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
H678R
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
R369H
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
Y231N
-
six missense mutations, producing the amino acid changes G94V, Y231N, R369H, G623R, H678R and G717V are detected in L-methylmalonyl-CoA mutase cDNA of patients suffering from the mut-form of methylmalonic acidemia resulting from defective adenosylcobalamin binding. The mutations increase the Km for adenosylcobalamin by 40fold to 900fold, while the values for maximal velocity varies from 0.2% to nearly 100% of that of the wild-type protein
additional information
neither a species barrier to mitochondrial processing nor an apparent immune response to MUT limits the murine model as an experimental platform to test the efficacy of human gene therapy vectors for methylmalonic acidemia
additional information
-
neither a species barrier to mitochondrial processing nor an apparent immune response to MUT limits the murine model as an experimental platform to test the efficacy of human gene therapy vectors for methylmalonic acidemia
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Kolhouse, J.F.; Utley, C.; Allen, R.H.
Isolation and characterization of methylmalonyl-CoA mutase from human placenta
J. Biol. Chem.
255
2708-2712
1980
Homo sapiens
brenda
Fenton, W.A.; Hack, A.M.; Willard, H.F.; Gertler, A.; Rosenberg, L.E.
Purification and properties of methylmalonyl coenzyme A mutase from human liver
Arch. Biochem. Biophys.
214
815-823
1982
Homo sapiens
brenda
Ledley, F.D.; Lumetta, M.; Nguyen, P.N.; Kolhouse, J.F.; Allen, R.H.
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines
Proc. Natl. Acad. Sci. USA
85
3518-3521
1988
Homo sapiens
brenda
Kolhouse, J.F.; Stabler, S.P.; Allen, R.H.
L-Methylmalonyl-CoA mutase from human placenta
Methods Enzymol.
166
407-414
1988
Homo sapiens
brenda
Taoka, S.; Padmakumar, R.; Lai, M.; Liu, H.; Banerjee, R.
Inhibition of the human methylmalonyl-CoA mutase by various CoA-esters
J. Biol. Chem.
269
31630-31634
1994
Homo sapiens
brenda
Janata, J.; Kogekar, N.; Fenton, W.A.
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut-phenotype: evidence for naturally occuring interallelic complementation
Hum. Mol. Genet.
6
1457-1464
1997
Homo sapiens
brenda
Deodato, F.; Boenzi, S.; Santorelli, F.M.; Dionisi-Vici, C.
Methylmalonic and propionic aciduria
Am. J. Med. Genet. C Semin. Med. Genet.
142C
104-112
2006
Homo sapiens
brenda
Carlucci, F.; Rosi, F.; Tommassini, V.; Tabucchi, A.
CE assay of methylmalonyl-coenzyme-A mutase activity
Electrophoresis
28
1921-1925
2007
Homo sapiens, Rattus norvegicus
brenda
Takahashi-Iniguez, T.; Garcia-Arellano, H.; Trujillo-Roldan, M.A.; Flores, M.E.
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein
Biochem. Biophys. Res. Commun.
404
443-447
2011
Homo sapiens
brenda
Froese, D.S.; Kochan, G.; Muniz, J.R.; Wu, X.; Gileadi, C.; Ugochukwu, E.; Krysztofinska, E.; Gravel, R.A.; Oppermann, U.; Yue, W.W.
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
J. Biol. Chem.
285
38204-38213
2010
Homo sapiens (P22033), Homo sapiens
brenda
Buck, N.E.; Wood, L.R.; Hamilton, N.J.; Bennett, M.J.; Peters, H.L.
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Biochem. Biophys. Res. Commun.
427
753-757
2012
Homo sapiens (P22033), Homo sapiens
brenda
Makins, C.; Pickering, A.V.; Mariani, C.; Wolthers, K.R.
Mutagenesis of a conserved glutamate reveals the contribution of electrostatic energy to adenosylcobalamin co-C bond homolysis in ornithine 4,5-aminomutase and methylmalonyl-CoA mutase
Biochemistry
52
878-888
2013
Homo sapiens (P22033), Homo sapiens
brenda
Chandler, R.J.; Venditti, C.P.
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)
Mol. Genet. Metab.
107
617-619
2012
Homo sapiens (P22033), Homo sapiens
brenda
Gotoh, K.; Nakajima, Y.; Tajima, G.; Hotta, Y.; Kataoka, T.; Kawade, Y.; Sugiyama, N.; Ito, T.; Kimura, K.; Maeda, Y.
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry
Anal. Bioanal. Chem.
407
5281-5286
2015
Homo sapiens (P22033), Homo sapiens
brenda
Takahashi-Iniguez, T.; Gonzalez-Noriega, A.; Michalak, C.; Flores, M.E.
Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation
Biochimie
142
191-196
2017
Homo sapiens (P22033), Homo sapiens
brenda