ArticleAmerican journal of human genetics1999
The molecular basis of malonyl-CoA decarboxylase deficiency.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 52 citations in OpenAlex.
- Article
- Lysine Malonylation and Its Links to Metabolism and Diseases.Aging and disease · 2023Review
- Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.Frontiers in medicine · 2023Article
- A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.Frontiers in pediatrics · 2023Article
- Insights into the post-translational modification and its emerging role in shaping the tumor microenvironment.Signal transduction and targeted therapy · 2021Review
- Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.International journal of molecular sciences · 2021Article
- Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.American journal of human genetics · 2020Article
- Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.Advances in biological regulation · 2019Review
- A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.Clinical case reports · 2017Article
- The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.Cell chemical biology · 2017Article
- Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.Journal of the American Society for Mass Spectrometry · 2017Article
- Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.Molecular & cellular proteomics : MCP · 2015Article
- Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog.Frontiers in veterinary science · 2015Article
- C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.Journal of inherited metabolic disease · 2014Article
- Malonyl-CoA decarboxylase inhibition is selectively cytotoxic to human breast cancer cells.Oncogene · 2009Article
- Viral infection and human disease--insights from minimotifs.Frontiers in bioscience : a journal and virtual library · 2008Review
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.Journal of inherited metabolic disease · 2007Article
- Malonyl-CoA decarboxylase is a major regulator of myocardial fatty acid oxidation.Current hypertension reports · 2005Review
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.Pediatric cardiologyArticle
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
Abstract
We characterized a 2.1-kb human cDNA with a 1362-bp (454-amino acid) open reading frame showing 70.3% amino acid identity to goose malonyl-CoA decarboxylase (MCD). We have identified two different homozygous mutations in human MCD (hMCD) by using RT-PCR analysis of fibroblast RNA from two previously reported consanguineous Scottish patients with MCD deficiency. The first mutation is a 442C-->G transversion resulting in a premature stop codon (S148X) in the N-terminal half of the protein. The second is a 13-bp insertion in the mature RNA, causing a frameshift with predicted protein truncation. This insertion is the result of an intronic mutation generating a novel splice acceptor sequence (IVS4-14A-->G). Both mutations were found to segregate appropriately within the families and were not found in 100 normal unrelated individuals. These mutations would be predicted to cause MCD deficiency, thus confirming this transcript as the hMCD ortholog. The peptide sequence of hMCD revealed a C-terminal peroxisomal targeting sequence (-SKL). This targeting signal appears to be functional in vivo, since the distribution of MCD enzymatic activity in rat liver homogenates-as measured by means of subcellular fractionation-strongly suggests that MCD is localized to peroxisomes in addition to the mitochondrial localization reported elsewhere. These data strongly support this cDNA as encoding human MCD, an important regulator of fatty acid metabolism.
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