Miziorko H - Search Results

1

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. Mitchell GA, et al. Among authors: miziorko h. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Am J Hum Genet. 1998. PMID: 9463337 Free PMC article.

2

3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.

Ashmarina LI, Rusnak N, Miziorko HM, Mitchell GA. Ashmarina LI, et al. Among authors: miziorko hm. J Biol Chem. 1994 Dec 16;269(50):31929-32. J Biol Chem. 1994. PMID: 7527399 Free article.

3

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, et al. Mitchell GA, et al. Among authors: miziorko hm. J Biol Chem. 1993 Feb 25;268(6):4376-81. J Biol Chem. 1993. PMID: 8440722 Free article.

4

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

Bouchard L, Robert MF, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard JV, Quant P, Hsu BY, Boneh A, Boukaftane Y, Ashmarina L, Wang S, Miziorko H, Mitchell GA. Bouchard L, et al. Among authors: miziorko h. Pediatr Res. 2001 Mar;49(3):326-31. doi: 10.1203/00006450-200103000-00005. Pediatr Res. 2001. PMID: 11228257

5

Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.

Roberts JR, Mitchell GA, Miziorko HM. Roberts JR, et al. Among authors: miziorko hm. J Biol Chem. 1996 Oct 4;271(40):24604-9. doi: 10.1074/jbc.271.40.24604. J Biol Chem. 1996. PMID: 8798725 Free article.

6

3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity.

Roberts JR, Narasimhan C, Hruz PW, Mitchell GA, Miziorko HM. Roberts JR, et al. Among authors: miziorko hm. J Biol Chem. 1994 Jul 8;269(27):17841-6. J Biol Chem. 1994. PMID: 8027038 Free article.

7

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, et al. Wang S, et al. Among authors: miziorko h. Mamm Genome. 1993;4(7):382-7. doi: 10.1007/BF00360589. Mamm Genome. 1993. PMID: 8102917

8

Evaluation of cysteine 266 of human 3-hydroxy-3-methylglutaryl-CoA lyase as a catalytic residue.

Roberts JR, Narasimhan C, Miziorko HM. Roberts JR, et al. Among authors: miziorko hm. J Biol Chem. 1995 Jul 21;270(29):17311-6. doi: 10.1074/jbc.270.29.17311. J Biol Chem. 1995. PMID: 7615532 Free article.

Both the wild-type human enzyme and a C323S variant, in which a regulatory sulfhydryl has been eliminated without any negative effect on catalytic activity (Roberts, J. R., Narasimhan, C., Hruz, P. W., Mitchell, G. A., and Miziorko, H. M. (1994) J. Biol. Chem. 269, …

Both the wild-type human enzyme and a C323S variant, in which a regulatory sulfhydryl has been eliminated without any negative effect on cat …

9

Evidence supporting a role for histidine-235 in cation binding to human 3-hydroxy-3-methyglutaryl-CoA lyase.

Roberts JR, Miziorko HM. Roberts JR, et al. Among authors: miziorko hm. Biochemistry. 1997 Jun 17;36(24):7594-600. doi: 10.1021/bi970207d. Biochemistry. 1997. PMID: 9200711

10

Human 3-hydroxy-3-methylglutaryl-CoA lyase.

Miziorko HM, Narasimhan C, Roberts JR. Miziorko HM, et al. Methods Enzymol. 2000;324:150-61. doi: 10.1016/s0076-6879(00)24228-6. Methods Enzymol. 2000. PMID: 10989427 No abstract available.

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