101 related articles for article (PubMed ID: 8617516)
21. Human phenol sulfotransferase STP2 gene: molecular cloning, structural characterization, and chromosomal localization.
Her C; Raftogianis R; Weinshilboum RM
Genomics; 1996 May; 33(3):409-20. PubMed ID: 8661000
[TBL] [Abstract][Full Text] [Related]
22. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
Campeau E; Desviat LR; Leclerc D; Wu X; Pérez B; Ugarte M; Gravel RA
Mol Genet Metab; 2001; 74(1-2):238-47. PubMed ID: 11592820
[TBL] [Abstract][Full Text] [Related]
23. The gonadotropin-regulated long-chain acyl CoA synthetase gene: a novel downstream Sp1/Sp3 binding element critical for transcriptional promoter activity.
Sheng Y; Li J; Dufau ML; Tsai-Morris CH
Gene; 2005 Oct; 360(1):20-6. PubMed ID: 16125341
[TBL] [Abstract][Full Text] [Related]
24. Characterization of the genomic structure and promoter of the mouse NAD+-dependent 15-hydroxyprostaglandin dehydrogenase gene.
Matsuo M; Ensor CM; Tai HH
Biochem Biophys Res Commun; 1997 Jun; 235(3):582-6. PubMed ID: 9207200
[TBL] [Abstract][Full Text] [Related]
25. Structural and functional characterizations of the 5'-flanking region of the mouse glucagon receptor gene: comparison with the rat gene.
Geiger A; Decaux JF; Burcelin R; Le Cam A; Salazar G; Charron MJ; Girard J; Kervran A
Biochem Biophys Res Commun; 2000 Jun; 272(3):912-21. PubMed ID: 10860851
[TBL] [Abstract][Full Text] [Related]
26. [Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].
Pierron S; Giudicelli H; Moreigne M; Khalfi A; Touati G; Caruba C; Rolland MO; Acquaviva C
Arch Pediatr; 2010 Jan; 17(1):10-3. PubMed ID: 19932602
[TBL] [Abstract][Full Text] [Related]
27. 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.
Mitchell GA; Robert MF; Hruz PW; Wang S; Fontaine G; Behnke CE; Mende-Mueller LM; Schappert K; Lee C; Gibson KM; Miziorko HM
J Biol Chem; 1993 Feb; 268(6):4376-81. PubMed ID: 8440722
[TBL] [Abstract][Full Text] [Related]
28. 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.
Wang S; Nadeau JH; Duncan A; Robert MF; Fontaine G; Schappert K; Johnson KR; Zietkiewicz E; Hruz P; Miziorko H
Mamm Genome; 1993; 4(7):382-7. PubMed ID: 8102917
[TBL] [Abstract][Full Text] [Related]
29. Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene.
Boukaftane Y; Mitchell GA
Gene; 1997 Aug; 195(2):121-6. PubMed ID: 9305755
[TBL] [Abstract][Full Text] [Related]
30. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
Mitchell GA; Ozand PT; Robert MF; Ashmarina L; Roberts J; Gibson KM; Wanders RJ; Wang S; Chevalier I; Plöchl E; Miziorko H
Am J Hum Genet; 1998 Feb; 62(2):295-300. PubMed ID: 9463337
[TBL] [Abstract][Full Text] [Related]
31. 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.
Aoyama Y; Yamamoto T; Sakaguchi N; Ishige M; Tanaka T; Ichihara T; Ohara K; Kouzan H; Kinosada Y; Fukao T
Int J Mol Med; 2015 Jun; 35(6):1554-60. PubMed ID: 25872961
[TBL] [Abstract][Full Text] [Related]
32. Molecular genetics of HMG-CoA lyase deficiency.
Pié J; López-Viñas E; Puisac B; Menao S; Pié A; Casale C; Ramos FJ; Hegardt FG; Gómez-Puertas P; Casals N
Mol Genet Metab; 2007 Nov; 92(3):198-209. PubMed ID: 17692550
[TBL] [Abstract][Full Text] [Related]
33. 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.
Casals N; Pié J; Casale CH; Zapater N; Ribes A; Castro-Gago M; Rodriguez-Segade S; Wanders RJ; Hegardt FG
J Lipid Res; 1997 Nov; 38(11):2303-13. PubMed ID: 9392428
[TBL] [Abstract][Full Text] [Related]
34. 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.
Pié J; Casals N; Casale CH; Buesa C; Mascaró C; Barceló A; Rolland MO; Zabot T; Haro D; Eyskens F; Divry P; Hegardt FG
Biochem J; 1997 Apr; 323 ( Pt 2)(Pt 2):329-35. PubMed ID: 9163320
[TBL] [Abstract][Full Text] [Related]
35. 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.
Wang SP; Marth JD; Oligny LL; Vachon M; Robert MF; Ashmarina L; Mitchell GA
Hum Mol Genet; 1998 Dec; 7(13):2057-62. PubMed ID: 9817922
[TBL] [Abstract][Full Text] [Related]
36. The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
Cardoso ML; Rodrigues MR; Leão E; Martins E; Diogo L; Rodrigues E; Garcia P; Rolland MO; Vilarinho L
Mol Genet Metab; 2004 Aug; 82(4):334-8. PubMed ID: 15308132
[TBL] [Abstract][Full Text] [Related]
37. 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.
Casale CH; Casals N; Pié J; Zapater N; Pérez-Cerdá C; Merinero B; Martínez-Pardo M; García-Peñas JJ; García-Gonzalez JM; Lama R; Poll-The BT; Smeitink JA; Wanders RJ; Ugarte M; Hegardt FG
Arch Biochem Biophys; 1998 Jan; 349(1):129-37. PubMed ID: 9439591
[TBL] [Abstract][Full Text] [Related]
38. Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Muroi J; Yorifuji T; Uematsu A; Shigematsu Y; Onigata K; Maruyama H; Nobutoki T; Kitamura A; Nakahata T
Hum Genet; 2000 Oct; 107(4):320-6. PubMed ID: 11129331
[TBL] [Abstract][Full Text] [Related]
39. Correspondence of RLGS-M spot behavior with tissue expression on mouse homologue of DP1/TB2 gene.
Kawai J; Suzuki H; Taga C; Hara A; Watanabe S
Biochem Biophys Res Commun; 1995 Aug; 213(3):967-74. PubMed ID: 7654261
[TBL] [Abstract][Full Text] [Related]
40. Nucleotide sequence and expression in Escherichia coli of the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene of Pseudomonas mevalonii.
Anderson DH; Rodwell VW
J Bacteriol; 1989 Dec; 171(12):6468-72. PubMed ID: 2687236
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
