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Items: 1 to 20 of 48

1.

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

Kopecká J, Krijt J, Raková K, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):39-48. doi: 10.1007/s10545-010-9087-5. Epub 2010 May 20.

2.

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.

Janosík M, Sokolová J, Janosíková B, Krijt J, Klatovská V, Kozich V.

J Pediatr. 2009 Mar;154(3):431-7. doi: 10.1016/j.jpeds.2008.09.015. Epub 2008 Oct 31.

3.

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

Gupta S, Wang L, Hua X, Krijt J, Kozich V, Kruger WD.

Hum Mutat. 2008 Aug;29(8):1048-54. doi: 10.1002/humu.20773.

4.

Biochemical and structural characterization of a novel family of cystathionine beta-synthase domain proteins fused to a Zn ribbon-like domain.

Proudfoot M, Sanders SA, Singer A, Zhang R, Brown G, Binkowski A, Xu L, Lukin JA, Murzin AG, Joachimiak A, Arrowsmith CH, Edwards AM, Savchenko AV, Yakunin AF.

J Mol Biol. 2008 Jan 4;375(1):301-15. Epub 2007 Nov 1.

5.

Chemical chaperone rescue of mutant human cystathionine beta-synthase.

Singh LR, Chen X, Kozich V, Kruger WD.

Mol Genet Metab. 2007 Aug;91(4):335-42. Epub 2007 May 30.

6.

DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.

Heil SG, Riksen NP, Boers GH, Smulders Y, Blom HJ.

Mol Genet Metab. 2007 May;91(1):55-60. Epub 2007 Mar 2.

PMID:
17336565
7.

Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.

Yamanishi M, Kabil O, Sen S, Banerjee R.

J Inorg Biochem. 2006 Dec;100(12):1988-95. Epub 2006 Sep 20. Review.

PMID:
17069888
8.

Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.

Chen X, Wang L, Fazlieva R, Kruger WD.

Hum Mutat. 2006 May;27(5):474-82.

PMID:
16619244
9.

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S.

Hum Mutat. 2006 Feb;27(2):211.

PMID:
16429402
10.

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Iinuma K, Kraus E, Stouracova R, Kraus JP.

Mol Genet Metab. 2006 Apr;87(4):323-8. Epub 2005 Nov 22.

PMID:
16307898
11.

Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.

Sen S, Yu J, Yamanishi M, Schellhorn D, Banerjee R.

Biochemistry. 2005 Nov 1;44(43):14210-6.

PMID:
16245937
12.

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

Wang L, Chen X, Tang B, Hua X, Klein-Szanto A, Kruger WD.

Hum Mol Genet. 2005 Aug 1;14(15):2201-8. Epub 2005 Jun 22.

13.

HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells.

Carra S, Sivilotti M, Chávez Zobel AT, Lambert H, Landry J.

Hum Mol Genet. 2005 Jun 15;14(12):1659-69. Epub 2005 May 6.

PMID:
15879436
14.

Birth prevalence of homocystinuria.

Refsum H, Fredriksen A, Meyer K, Ueland PM, Kase BF.

J Pediatr. 2004 Jun;144(6):830-2.

PMID:
15192637
15.

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.

Cancer Res. 2004 Jun 1;64(11):3790-7.

16.

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Orendáè M, Pronicka E, Kubalska J, Janosik M, Sokolová J, Linnebank M, Koch HG, Kozich V.

Hum Mutat. 2004 Jun;23(6):631.

PMID:
15146473
17.

Protein measurement with the Folin phenol reagent.

LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ.

J Biol Chem. 1951 Nov;193(1):265-75. No abstract available.

18.

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.

Orendác M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stöckler-Ipsiroglu S, Kvasnicka J, Kozich V.

J Inherit Metab Dis. 2003;26(8):761-73.

PMID:
14739681
19.

Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

Kruger WD, Wang L, Jhee KH, Singh RH, Elsas LJ 2nd.

Hum Mutat. 2003 Dec;22(6):434-41.

PMID:
14635102
20.

STARCH-GEL ELECTROPHORESIS--APPLICATION TO THE CLASSIFICATION OF PITUITARY PROTEINS AND POLYPEPTIDES.

FERGUSON KA.

Metabolism. 1964 Oct;13:SUPPL:985-1002. No abstract available.

PMID:
14228777

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