A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria-Reference-Cited by-同舟云学术

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria

Published:1997-11 Issue:11 Volume:38 Page:2303-2313
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Casals N,Pié J,Casale C H,Zapater N,Ribes A,Castro-Gago M,Rodriguez-Segade S,Wanders R J,Hegardt F G

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference41 articles.

1. 3-Hydroxy-3-methyl-glutaryl coenzyme A lyase deficiency: a review;Wysocki;J. Inherit. Metab. Dis.,1986

2. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: report of five new patients;Gibson;J. Inherit. Metab. Dis.,1988

3. 3-Hydroxy-3-methyl glutaric aciduria: 3-hydroxy-3-methylglutaryl CoA lyase deficiency. In The Metabolic and Molecular Basis of Inherited Disease;Sweetman,1995

4. Thomas, and H. Gleispach. 1991. 3-Hydroxy-3-methylglu-taryl coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia;Ozand;J. Inherit. Metab. Dis.,1991

5. Physiological roles of ketone bodies as substrates and signals in mammalian tissues;Robinson;Physiol. Rev.,1980

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones;International Journal of Molecular Sciences;2019-12-04

2. 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;Molecular Genetics and Metabolism;2013-04

3. Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway;Molecular Biology Reports;2011-09-28

4. Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America;Journal of Inherited Metabolic Disease;2007-12-17

5. C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity;Molecular Genetics and Metabolism;2007-06