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Methylcrotonoyl-CoA carboxylase 1

3-methylcrotonyl-CoA carboxylase, MCCB, MCCA
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, MCC, fibrillin-1, HAD, AGE
Papers on 3-methylcrotonyl-CoA carboxylase
Randomized, Double-Blind, Placebo-Controlled Study of Encenicline, an α7 Nicotinic Acetylcholine Receptor Agonist, as a Treatment for Cognitive Impairment in Schizophrenia.
New
Hilt et al., Durham, United States. In Neuropsychopharmacology, Dec 2015
Secondary end points include MATRICS Consensus Cognitive Battery (MCCB) (in US patients), the Schizophrenia Cognition Rating Scale (SCoRS) total score, SCoRS global rating, and Positive and Negative Syndrome Scale (PANSS) total and subscale and cognition factor scores.
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
New
Spiegel et al., Haifa, Israel. In J Inherit Metab Dis, Dec 2015
Most of the mutations identified in the MCCC1 and MCCC2 genes were missense, five of them were novel.
Enzymatic Synthesis and Functional Characterization of Bioactive Microcin C-Like Compounds with Altered Peptide Sequence and Length.
New
Severinov et al., Saint Petersburg, Russia. In J Bacteriol, Oct 2015
McC is synthesized by the MccB enzyme, which terminally adenylates the MccA heptapeptide precursor MRTGNAN.
Zinc oxide induces the stringent response and major reorientations in the central metabolism of Bacillus subtilis.
New
Lelong et al., Grenoble, France. In J Proteomics, Aug 2015
Proteomic analysis highlighted twelve modulated proteins related to central metabolism: MetE and MccB (cysteine metabolism), OdhA, AspB, IolD, AnsB, PdhB and YtsJ (Krebs cycle) and XylA, YqjI, Drm and Tal (pentose phosphate pathway).
Severity of malaria in relation to a complement receptor 1 polymorphism: a case-control study.
New
Dodoo et al., In Pathog Glob Health, Jul 2015
P = 0.07) for McCb/b genotype when compared with the McCa/a genotype.
Prediction of working memory performance in schizophrenia by plasma ratio of clozapine to N-desmethylclozapine.
New
Remington et al., Toronto, Canada. In Am J Psychiatry, Jun 2015
METHOD: Thirty patients with schizophrenia or schizoaffective disorder who were receiving clozapine monotherapy at bedtime completed the MATRICS Consensus Cognitive Battery (MCCB) on the day their blood was collected to assess concentrations of clozapine and NDMC as well as serum anticholinergic activity.
Safety, tolerability and pharmacokinetics of open label sarcosine added on to anti-psychotic treatment in schizophrenia - preliminary study.
Weiser et al., Ramat Gan, Israel. In Isr J Psychiatry Relat Sci, 2014
Pharmacokinetics samples, clinical and cognitive parameters using PANSS, CGI and MCCB were collected for all patients.
Structure and substrate selectivity of the 750-kDa α6β6 holoenzyme of geranyl-CoA carboxylase.
Tong et al., New York City, United States. In Nat Commun, 2014
GCC has the same domain organization and shares strong sequence conservation with the related biotin-dependent carboxylases 3-methylcrotonyl-CoA carboxylase (MCC) and propionyl-CoA carboxylase (PCC).
Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.
Review
Ryan et al., Oakland, United States. In J Inherit Metab Dis, 2014
This metabolite fails to proceed further up the leucine degradation pathway owing to the kinetic properties of 3-methylcrotonyl CoA carboxylase.
Structure and function of biotin-dependent carboxylases.
Review
Tong, New York City, United States. In Cell Mol Life Sci, 2013
Biotin-dependent carboxylases include acetyl-CoA carboxylase (ACC), propionyl-CoA carboxylase (PCC), 3-methylcrotonyl-CoA carboxylase (MCC), geranyl-CoA carboxylase, pyruvate carboxylase (PC), and urea carboxylase (UC).
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
GeneRIF
Silva et al., Lisbon, Portugal. In J Inherit Metab Dis, 2012
3-methylcrotonyl-CoA carboxylase inhibition has a role in increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
GeneRIF
Baumgartner et al., Zürich, Switzerland. In Mol Genet Metab, 2012
Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
An unanticipated architecture of the 750-kDa α6β6 holoenzyme of 3-methylcrotonyl-CoA carboxylase.
Impact
Tong et al., New York City, United States. In Nature, 2012
3-Methylcrotonyl-CoA carboxylase (MCC), a member of the biotin-dependent carboxylase superfamily, is essential for the metabolism of leucine, and deficient mutations in this enzyme are linked to methylcrotonylglycinuria (MCG) and other serious diseases in humans.
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
GeneRIF
Jin et al., In Clin Genet, 2012
study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
GeneRIF
Nyhan et al., San Diego, United States. In Mol Genet Metab, 2011
identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients
Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
Impact
Tong et al., New York City, United States. In Nature, 2010
The alpha-subunit contains the biotin carboxylase (BC) and biotin carboxyl carrier protein (BCCP) domains, whereas the beta-subunit supplies the carboxyltransferase (CT) activity.
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
GeneRIF
Baumgartner et al., Zürich, Switzerland. In J Biol Chem, 2009
analysis of a novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Review
Longo et al., Rochester, United States. In Mol Genet Metab, 2008
3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births).
Biochemical findings in common inborn errors of metabolism.
Review
Longo et al., Salt Lake City, United States. In Am J Med Genet C Semin Med Genet, 2006
Here, we review common biochemical findings in disorders caused by deficiency of 3-methylcrotonyl-CoA carboxylase, isobutyryl-CoA dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-ketothiolase, 2-methylbutyryl-CoA dehydrogenase, and medium chain acyl CoA dehydrogenase.
Multiple haem lyase genes indicate substrate specificity in cytochrome c biogenesis.
Review
Simon et al., Norwich, United Kingdom. In Biochem Soc Trans, 2006
The discovery of a novel conserved multihaem cytochrome c (MccA) is described.
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