Condition: HMG CoA lyase deficiency


rs121964996 in HMGCL gene and HMG CoA lyase deficiency PMID 8798725 1996 Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.

PMID 19036343 2009 Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

PMID 16601870 2006 A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

PMID 17459752 2007 C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

PMID 9784232 1998 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.

PMID 9463337 1998 HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

PMID 17173698 2006 Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

PMID 12746442 2003 Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

PMID 19177531 2009 Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

PMID 11129331 2000 Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

PMID 9439591 1998 A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

PMID 17692550 2007 Molecular genetics of HMG-CoA lyase deficiency.

PMID 14518825 2003 Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

PMID 15308132 2004 The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

PMID 16330550 2006 Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.

PMID 8440722 1993 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.

PMID 9163320 1997 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.

PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

PMID 23465862 2013 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.

PMID 15752612 2005 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.

PMID 11461194 2001 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

rs786205431 in HMGCL;GALE gene and HMG CoA lyase deficiency PMID 9463337 1998 HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

PMID 15308132 2004 The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

PMID 19177531 2009 Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

PMID 17173698 2006 Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

rs1212444447 in HMGCL;LOC105376861 gene and HMG CoA lyase deficiency PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

rs1409716731 in LOC105376861;HMGCL gene and HMG CoA lyase deficiency PMID 14518825 2003 Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

PMID 28583327 2017 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.