| 1 | HMGCL, HMGCLD
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| Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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| Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T.
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| Int J Mol Med 35(6):1554-60. doi: 10.3892/ijmm.2015.2184.
2015
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| 2 | HMGCL, HMGCLD
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| Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
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| Puisac B, Teresa-Rodrigo ME, Arnedo M, Gil-Rodríguez MC, Pérez-Cerdá C, Ribes A, Pié A, Bueno G, Gómez-Puertas P, Pié J.
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| Mol Genet Metab 108(4):232-40. doi: 10.1016/j.ymgme.2013.01.019.
2013
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| 3 | HMGCL, HMGCS2
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| Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
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| Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J.
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| Mol Biol Rep 39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28.
2012
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| 4 | HMGCL, HMGCLL1
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| Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.
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| Montgomery C, Pei Z, Watkins PA, Miziorko HM.
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| J Biol Chem 287(40):33227-36. Epub 2012 Aug 3. 2012
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| 5 | HMGCL
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| Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts.
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| Montgomery C, Miziorko HM.
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| Arch Biochem Biophys 511(1-2):48-55. doi: 10.1016/j.abb.2011.04.004. Epub 2011 Apr 13.
2011
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| 6 | HMGCL
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| Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes.
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| Fu Z, Runquist JA, Montgomery C, Miziorko HM, Kim JJ.
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| J Biol Chem 285(34):26341-9. doi: 10.1074/jbc.M110.139931. Epub 2010 Jun 17.
2010
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| 7 | HMGCL, HMGCLD
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| Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
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| Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J.
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| Hum Mutat 30(3):E520-9. doi: 10.1002/humu.20966. 2009
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| 8 | HMGCL, HMGCLD
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| Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
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| Lin WD, Wang CH, Lai CC, Tsai Y, Wu JY, Chen CP, Tsai FJ.
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| Clin Chim Acta 401(1-2):33-6. doi: 10.1016/j.cca.2008.11.004. Epub 2008 Nov 12. 2009
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| 9 | HMGCL
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| C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
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| Carrasco P, Menao S, L—pez-Vi–as E, Santpere G, Clotet J, Sierra AY, Gratac—s E, Puisac B, G—mez-Puertas P, Hegardt FG, Pie J, Casals N.
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| Mol Genet Metab 91(2):120-7. Epub 2007 Apr 24. 2007
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| 10 | HMGCL, HMGCLD
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| Molecular genetics of HMG-CoA lyase deficiency.
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| PiŽ J, L—pez-Vi–as E, Puisac B, Menao S, PiŽ A, Casale C, Ramos FJ, Hegardt FG, G—mez-Puertas P, Casals N.
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| Mol Genet Metab 92(3):198-209. Epub 2007 Aug 9. 2007
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| 11 | HMGCL
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| 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.
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| Puisac B, Lopez-Vinas E, Moreno S, Mir C, Perez-Cerda C, Menao S, Lluch D, Pie A, Gomez-Puertas P, Casals N, Ugarte M, Hegardt F, Pie J.
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| Biophys Chem 115(2-3):241-5. Epub 2005 Jan 6. 2005
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| 12 | HMGCL, HMGCLD
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| Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
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| Pie J, Casals N, Puisac B, Hegardt FG.
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| J Physiol Biochem 59(4):311-21. 2003
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| 13 | HMGCL, HMGCLD
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| Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
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| Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T.
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| Hum Genet 107(4):320-6. 2000
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| 14 | HMGCL, HMGCLD
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| HMG CoA lyase deficiency : identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
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| Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plochl E, Miziorko H.
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| Am J Hum Genet 62(2):295-300. 1998
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| 15 | HMGCL
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| 3-hydroxy-3-methylglutaryl-CoA lyase (HL) : gene targeting causes prenatal lethality in HL-deficient mice.
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| Wang SP, et al.
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| Hum Mol Genet 7 : 2057-2062. 1998
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| 16 | HMGCL
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| Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3 methylglutaric aciduria in a French patient.
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| Zapater N, et al.
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| Arch Biochem Biophys 358 : 197-203. 1998
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| 17 | HMGCL
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| A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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| Pie J, et al.
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| Biochem J 323 : 329-335. 1997
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| 18 | HMGCL
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| 3-hydroxy-3-methylglutaryl CoA lyase (HL) : mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.
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| Wang SP, et al.
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| Genomics 33 : 99-104. 1996
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| 19 | HMGCL
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| HMG-CoA lyase (HL) gene : cloning and characterization of the 5' end of the mouse gene, gene targeting in ES Cells, and demonstration of large deletions in three HL deficient patients. (abstr)
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| Wang S, et al.
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| Am J Hum Genet 55 : A248. 1994
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| 20 | HMGCL
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| 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) : cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes.
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| Wang S, et al.
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| Mamm Genome 4 : 382-387. 1993
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| 21 | HMGCL, HMGCLL1
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| 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
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| Mitchell GA, et al.
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| J Biol Chem 268 : 4376-4381. 1993
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