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FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. The molecular basis of malonyl-CoA decarboxylase deficiency. Am J Hum Genet. 1999 Aug;65(2):318-26.
Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. J Lipid Res. 1999 Jan;40(1):178-82.
Sacksteder KA, Morrell JC, Wanders RJ, Matalon R, Gould SJ. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. J Biol Chem. 1999 Aug 27;274(35):24461-8.
Saggerson D. Malonyl-CoA, a key signaling molecule in mammalian cells. Annu Rev Nutr. 2008;28:253-72. doi: 10.1146/annurev.nutr.28.061807.155434. Review.
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. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. J Inherit Metab Dis. 2007 Feb;30(1):23-8. Epub 2006 Dec 20.
Sambandam N, Steinmetz M, Chu A, Altarejos JY, Dyck JR, Lopaschuk GD. Malonyl-CoA decarboxylase (MCD) is differentially regulated in subcellular compartments by 5'AMP-activated protein kinase (AMPK). Studies using H9c2 cells overexpressing MCD and AMPK by adenoviral gene transfer technique. Eur J Biochem. 2004 Jul;271(13):2831-40.
Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R. Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. J Neurosci Res. 2001 Sep 15;65(6):591-4.
Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. Hum Mutat. 2003 Oct;22(4):288-300.
Reviewed: January 2010
Published: March 4, 2014
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