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References

These sources were used to develop the Genetics Home Reference gene summary on the HMGCL gene.

Al-Sayed M, Imtiaz F, Alsmadi OA, Rashed MS, Meyer BF. Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. BMC Med Genet. 2006 Dec 16;7:86. PubMed citation
Ashmarina LI, Pshezhetsky AV, Branda SS, Isaya G, Mitchell GA. 3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria. J Lipid Res. 1999 Jan;40(1):70-5. PubMed citation
Cardoso ML, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L. The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. Mol Genet Metab. 2004 Aug;82(4):334-8. PubMed citation
Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. J Biol Chem. 2003 Aug 1;278(31):29016-23. Epub 2003 May 13. PubMed citation
Entrez Gene
Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ. Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. J Biol Chem. 2006 Mar 17;281(11):7526-32. Epub 2005 Dec 5. PubMed citation
Pie J, Casals N, Puisac B, Hegardt FG. Molecular basis of 3-hydroxy-3-methylglutaric aciduria. J Physiol Biochem. 2003 Dec;59(4):311-21. PubMed citation
Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. Molecular genetics of HMG-CoA lyase deficiency. Mol Genet Metab. 2007 Nov;92(3):198-209. Epub 2007 Aug 9. Review. PubMed citation
Puisac B, López-Viñas E, Moreno S, Mir C, Pérez-Cerdá C, Menao S, Lluch D, Pié A, Gómez-Puertas P, Casals N, Ugarte M, Hegardt F, Pié J. Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL. Biophys Chem. 2005 Apr 1;115(2-3):241-5. Epub 2005 Jan 6. PubMed citation


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