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Page 1
Altered propionate metabolism contributes to tumour progression and aggressiveness.
Gomes AP, Ilter D, Low V, Drapela S, Schild T, Mullarky E, Han J, Elia I, Broekaert D, Rosenzweig A, Nagiec M, Nunes JB, Schaffer BE, Mutvei AP, Asara JM, Cantley LC, Fendt SM, Blenis J. Gomes AP, et al. Nat Metab. 2022 Apr;4(4):435-443. doi: 10.1038/s42255-022-00553-5. Epub 2022 Mar 31. Nat Metab. 2022. PMID: 35361954 Free PMC article.
This occurs through the downregulation of methylmalonyl coenzyme A epimerase (MCEE), mediated by an extracellular signal-regulated kinase 2-driven transcription factor Sp1/early growth response protein 1 transcriptional switch driven by metastatic signalling at its promote …
This occurs through the downregulation of methylmalonyl coenzyme A epimerase (MCEE), mediated by an extracellular signal-regulated ki …
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, Yue WW, Baumgartner MR. Heuberger K, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1265-1272. doi: 10.1016/j.bbadis.2019.01.021. Epub 2019 Jan 22. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30682498 Free PMC article.
Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of d-methylmalonyl-CoA and l-methylmalonyl-CoA in propionate catabolism. ...MCEE-Arg143Cys was detectable at comparable levels to wt MCEE, but had slightly altered unf …
Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of d-methylmalonyl-CoA and l-methylmalony …
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A. Abily-Donval L, et al. Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294. Int J Mol Sci. 2017. PMID: 29104221 Free PMC article.
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. ...Methylmalonic pathway gene set analysis using the next-generation sequencing approach allowed identification o …
Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-Co …
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S. Fathi M, et al. Sci Rep. 2025 May 12;15(1):16389. doi: 10.1038/s41598-025-01563-5. Sci Rep. 2025. PMID: 40355523 Free PMC article.
While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute to the pathogenesis of the isolated form, variants in MMACHC, MMADHC, LMBRD1, and ABCD4 genes, are responsible for diverse types of combined MMA and homocystinuria. ...
While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute to the pathogenesis of the isolated form, variants in MMACHC …
The causal relationships between mitochondria and six types of cancer: a Mendelian randomization study.
Tang J, Zhang J, Yang R, Chen H, Yu X, Peng W, Zeng P. Tang J, et al. BMC Cancer. 2025 Apr 28;25(1):794. doi: 10.1186/s12885-025-14201-0. BMC Cancer. 2025. PMID: 40295943 Free PMC article.
"Phenylalanine-tRNA ligase, mitochondrial", and others demonstrated a negative association with colorectal cancer, whereas "Methylmalonyl-CoA epimerase, mitochondrial", and others exhibited a positive correlation with colorectal cancer. ...
"Phenylalanine-tRNA ligase, mitochondrial", and others demonstrated a negative association with colorectal cancer, whereas "Methylmalonyl …
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.
Andréasson M, Zetterström RH, von Döbeln U, Wedell A, Svenningsson P. Andréasson M, et al. Int J Mol Sci. 2019 May 29;20(11):2631. doi: 10.3390/ijms20112631. Int J Mol Sci. 2019. PMID: 31146325 Free PMC article.
Methylmalonic aciduria (MMA-uria) is seen in several inborn errors of metabolism (IEM) affecting intracellular cobalamin pathways. Methylmalonyl-CoA epimerase (MCE) is an enzyme involved in the mitochondrial cobalamin-dependent pathway generating succinyl-CoA …
Methylmalonic aciduria (MMA-uria) is seen in several inborn errors of metabolism (IEM) affecting intracellular cobalamin pathways. Methyl …
Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study.
Tang H, Wei P, Chang P, Li Y, Yan D, Liu C, Hassan M, Li D. Tang H, et al. Int J Cancer. 2017 Aug 15;141(4):678-686. doi: 10.1002/ijc.30762. Epub 2017 May 15. Int J Cancer. 2017. PMID: 28470677 Free PMC article.
This locus is in LD (D' = 0.77) with three eQTL SNPs near or belong to the NAGK and MCEE genes. According to The Cancer Genome Atlas data and our previous RNA-sequencing data, the mRNA expression level of PAIP2B but not NAGK, MCEE or DYSF was significantly lower in …
This locus is in LD (D' = 0.77) with three eQTL SNPs near or belong to the NAGK and MCEE genes. According to The Cancer Genome Atlas …
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Önenli Mungan HN. Şeker Yılmaz B, et al. Turk J Med Sci. 2021 Jun 28;51(3):1220-1228. doi: 10.3906/sag-2001-72. Turk J Med Sci. 2021. PMID: 33453710 Free PMC article.
BACKGROUND/AIM: Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 or mut- enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methyl …
BACKGROUND/AIM: Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (m …
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
Devi AR, Naushad SM. Devi AR, et al. Clin Biochem. 2017 Jan;50(1-2):68-72. doi: 10.1016/j.clinbiochem.2016.08.016. Epub 2016 Aug 31. Clin Biochem. 2017. PMID: 27591164
DESIGN AND METHODS: Targeted exome sequencing was performed for a panel of MMA causing genes i.e. MUT, ABCD4, ACSF3, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC. RESULTS: Methylmalonyl-CoA mutase (MUT), MMAB and MMAA genetic variants were found to contribute towards 40 …
DESIGN AND METHODS: Targeted exome sequencing was performed for a panel of MMA causing genes i.e. MUT, ABCD4, ACSF3, CD320, LMBRD1, MCEE …
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Lin Y, Lin C, Lin W, Zheng Z, Han M, Fu Q. Lin Y, et al. BMC Med Genet. 2018 Jul 11;19(1):114. doi: 10.1186/s12881-018-0635-4. BMC Med Genet. 2018. PMID: 29996803 Free PMC article.
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its co …
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme …