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Disease on EC 4.1.1.9 - malonyl-CoA decarboxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Aortic Valve Disease
Deciphering the gene expression profile of peroxisome proliferator-activated receptor signaling pathway in the left atria of patients with mitral regurgitation.
Arthritis, Rheumatoid
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations.
Breast Neoplasms
Malonyl-CoA decarboxylase inhibition is selectively cytotoxic to human breast cancer cells.
Cardiomyopathies
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Malonyl coenzyme a decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency.
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Diabetes Mellitus
Mitochondrial regulators of fatty acid metabolism reflect metabolic dysfunction in type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Mitochondrial regulators of fatty acid metabolism reflect metabolic dysfunction in type 2 diabetes mellitus.
Epilepsy
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Malonic aciduria.
Hypertension, Pulmonary
Fatty acid oxidation and malonyl-CoA decarboxylase in the vascular remodeling of pulmonary hypertension.
Hypoglycemia
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations.
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Insulin Resistance
Cardiac diacylglycerol accumulation in high fat-fed mice is associated with impaired insulin-stimulated glucose oxidation.
Genetic and Pharmacological Inhibition of Malonyl CoA Decarboxylase Does Not Exacerbate Age-Related Insulin Resistance in Mice.
Hepatic expression of malonyl-CoA decarboxylase reverses muscle, liver and whole-animal insulin resistance.
Inhibition of malonyl-CoA decarboxylase reduces the inflammatory response associated with insulin resistance.
Intellectual Disability
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations.
The origin of free brain malonate.
malonyl-coa decarboxylase deficiency
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16.
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency.
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Malonyl coenzyme A decarboxylase deficiency.
Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect.
Malonyl coenzyme a decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations.
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency.
Metabolism of malonic semialdehyde in man.
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
The molecular basis of malonyl-CoA decarboxylase deficiency.
The origin of free brain malonate.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
[A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study].
Muscle Hypotonia
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Myocardial Infarction
Effect of Inhibiting Malonyl-CoA Decarboxylase on Cardiac Remodeling after Myocardial Infarction in Rats.
Myocardial Ischemia
Malonyl-CoA decarboxylase inhibition as a novel approach to treat ischemic heart disease.
Neoplasms
Fimasartan Ameliorates Nonalcoholic Fatty Liver Disease through PPAR? Regulation in Hyperlipidemic and Hypertensive Conditions.
Malonyl-CoA decarboxylase inhibition is selectively cytotoxic to human breast cancer cells.
Roles of omental and bone marrow adipocytes in tumor biology.
Obesity
Cardiac dysfunction and peri-weaning mortality in malonyl-coenzyme A decarboxylase (MCD) knockout mice as a consequence of restricting substrate plasticity.
Insulin-stimulated cardiac glucose oxidation is increased in high-fat diet-induced obese mice lacking malonyl CoA decarboxylase.
Rhabdomyosarcoma
Inhibition of lipid metabolism exerts antitumor effects on rhabdomyosarcoma.
Seizures
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Tuberculosis
Malonyl-CoA decarboxylase from Mycobacterium tuberculosis and Pseudomonas fluorescens.