Citations for
1MCCC1, MCCC2
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T.
J Hum Genet 52(12):1040-3. Epub 2007 Oct 30. 2007
2MCCC1
Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).
Chu CH, Cheng D.
Protein Expr Purif 53(2):421-7. Epub 2007 Feb 2. 2007
3ACAD8D, ACADM, ACADSB, ACADSBD, ACAT1, HSD17B10, MCCC1, MCCC2, MHBD
Biochemical findings in common inborn errors of metabolism.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
Am J Med Genet C Semin Med Genet 142(2):64-76. Review. 2006
4MCCC1, MCCC2
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Desviat LR, Perez-Cerda C, Perez B, Esparza-Gordillo J, Rodriguez-Pombo P, Penalva MA, Rodriguez De Cordoba S, Ugarte M.
Mol Genet Metab 80(3):315-20. 2003
5MCCC1, MCCC2
Human Biotin-Containing Subunit of 3-Methylcrotonyl-CoA Carboxylase Gene (MCCA): cDNA Sequence, Genomic Organization, Localization to Chromosomal Band 3q27, and Expression.
Obata K, Fukuda T, Morishita R, Abe S, Asakawa S, Yamaguchi S, Yoshino M, Ihara K, Murayama K, Shigemoto K, Shimizu N, Kondo I.
Genomics 72(2):145-52. 2001
6MCCC1, MCCC2
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Gallardo ME, Desviat LR, Rodriguez JM, Esparza-Gordillo J, Perez-Cerda C, Perez B, Rodriguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Cordoba SR, Ugarte M, Penalva MA.
Am J Hum Genet 68(2):334-46. Epub 2001 Jan 17. 2001
7MCCC1, MCCC2
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D.
J Clin Invest 107(4):495-504. 2001
8MCCC1
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
Gibson KM, Bennett MJ, Naylor EW, Morton DH.
J Pediatr 132(3 Pt 1):519-23. 1998