220 related articles for article (PubMed ID: 21841779)
21. Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.
Polinati PP; Valanne L; Tyni T
Brain Dev; 2015 Jan; 37(1):107-13. PubMed ID: 24613099
[TBL] [Abstract][Full Text] [Related]
22. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M; Tian X; Chu J; Wang G; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Watkins D; Wong LJ; Rosenblatt DS
Mol Genet Metab; 2016 Mar; 117(3):363-8. PubMed ID: 26827111
[TBL] [Abstract][Full Text] [Related]
23. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Salomons GS; Jakobs C; Pope LL; Errami A; Potter M; Nowaczyk M; Olpin S; Manning N; Raiman JA; Slade T; Champion MP; Peck D; Gavrilov D; Hillman R; Hoganson GE; Donaldson K; Shield JP; Ketteridge D; Wasserstein M; Gibson KM
J Inherit Metab Dis; 2007 Feb; 30(1):23-8. PubMed ID: 17186413
[TBL] [Abstract][Full Text] [Related]
24. The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.
Bowman CE; Rodriguez S; Selen Alpergin ES; Acoba MG; Zhao L; Hartung T; Claypool SM; Watkins PA; Wolfgang MJ
Cell Chem Biol; 2017 Jun; 24(6):673-684.e4. PubMed ID: 28479296
[TBL] [Abstract][Full Text] [Related]
25. The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.
Wehbe Z; Behringer S; Alatibi K; Watkins D; Rosenblatt D; Spiekerkoetter U; Tucci S
Biochim Biophys Acta Mol Cell Biol Lipids; 2019 Nov; 1864(11):1629-1643. PubMed ID: 31376476
[TBL] [Abstract][Full Text] [Related]
26. Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.
Colak G; Pougovkina O; Dai L; Tan M; Te Brinke H; Huang H; Cheng Z; Park J; Wan X; Liu X; Yue WW; Wanders RJ; Locasale JW; Lombard DB; de Boer VC; Zhao Y
Mol Cell Proteomics; 2015 Nov; 14(11):3056-71. PubMed ID: 26320211
[TBL] [Abstract][Full Text] [Related]
27. Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.
Witkowski A; Thweatt J; Smith S
J Biol Chem; 2011 Sep; 286(39):33729-36. PubMed ID: 21846720
[TBL] [Abstract][Full Text] [Related]
28. Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Baertling F; Mayatepek E; Thimm E; Schlune A; Kovacevic A; Distelmaier F; Salomons GS; Meissner T
Eur J Pediatr; 2014 Dec; 173(12):1719-22. PubMed ID: 25233985
[TBL] [Abstract][Full Text] [Related]
29. A gene cluster encoding malonyl-CoA decarboxylase (MatA), malonyl-CoA synthetase (MatB) and a putative dicarboxylate carrier protein (MatC) in Rhizobium trifolii--cloning, sequencing, and expression of the enzymes in Escherichia coli.
An JH; Kim YS
Eur J Biochem; 1998 Oct; 257(2):395-402. PubMed ID: 9826185
[TBL] [Abstract][Full Text] [Related]
30. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA
Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227
[TBL] [Abstract][Full Text] [Related]
31. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP; Dobson CM; Wai T; Watkins D; Tirone JC; Leclerc D; Doré C; Lepage P; Gravel RA; Rosenblatt DS
Hum Mutat; 2004 Dec; 24(6):509-16. PubMed ID: 15523652
[TBL] [Abstract][Full Text] [Related]
32. A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3.
Monteuuis G; Suomi F; Kerätär JM; Masud AJ; Kastaniotis AJ
Biochem J; 2017 Nov; 474(22):3783-3797. PubMed ID: 28986507
[TBL] [Abstract][Full Text] [Related]
33. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP; Gradinger AB; Watkins D; Tirone JC; Villeneuve A; Dobson CM; Montpetit A; Lepage P; Gravel RA; Rosenblatt DS
Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
[TBL] [Abstract][Full Text] [Related]
34. DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (
Algothmi K; Alqurashi A; Alrofaidi A; Alharbi M; Farsi R; Alburae N; Ganash M; Azhari S; Basingab F; Almuhammadi A; Alqosaibi A; Alkhatabi H; Elaimi A; Jan M; Aldhalaan H; Alrafiah A; Alhazmi S
Pharmgenomics Pers Med; 2022; 15():131-142. PubMed ID: 35221709
[TBL] [Abstract][Full Text] [Related]
35. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
Thomä NH; Leadlay PF
Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917
[TBL] [Abstract][Full Text] [Related]
36. Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.
O'Brien DP; Barshop BA; Faunt KK; Johnson GC; Gibson KM; Shelton GD
J Inherit Metab Dis; 1999 Dec; 22(8):883-90. PubMed ID: 10604140
[TBL] [Abstract][Full Text] [Related]
37. Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
Devi AR; Naushad SM
Clin Biochem; 2017 Jan; 50(1-2):68-72. PubMed ID: 27591164
[TBL] [Abstract][Full Text] [Related]
38. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J; Pupavac M; Watkins D; Tian X; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Wong LJ; Rosenblatt DS
Mol Genet Metab; 2016 Aug; 118(4):264-71. PubMed ID: 27233228
[TBL] [Abstract][Full Text] [Related]
39. Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Malvagia S; Papi L; Morrone A; Donati MA; Ciani F; Pasquini E; la Marca G; Scholte HR; Genuardi M; Zammarchi E
Ann Hum Genet; 2007 Nov; 71(Pt 6):705-12. PubMed ID: 17535268
[TBL] [Abstract][Full Text] [Related]
40. Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.
Lee JK; Oh A
J Korean Med Sci; 2023 Nov; 38(45):e387. PubMed ID: 37987109
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]