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Results: 1 to 20 of 100

1.

Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Mayfield JA, Davies MW, Dimster-Denk D, Pleskac N, McCarthy S, Boydston EA, Fink L, Lin XX, Narain AS, Meighan M, Rine J.

Genetics. 2012 Apr;190(4):1309-23. doi: 10.1534/genetics.111.137471. Epub 2012 Jan 20. Erratum in: Genetics. 2012 Oct;192(2):759-60.

PMID:
22267502
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.

Dimster-Denk D, Tripp KW, Marini NJ, Marqusee S, Rine J.

G3 (Bethesda). 2013 Oct 3;3(10):1619-28. doi: 10.1534/g3.113.006916.

PMID:
23934999
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

Kim CE, Gallagher PM, Guttormsen AB, Refsum H, Ueland PM, Ose L, Folling I, Whitehead AS, Tsai MY, Kruger WD.

Hum Mol Genet. 1997 Dec;6(13):2213-21.

PMID:
9361025
[PubMed - indexed for MEDLINE]
Free Article
5.

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

Kruger WD, Cox DR.

Hum Mol Genet. 1995 Jul;4(7):1155-61.

PMID:
8528202
[PubMed - indexed for MEDLINE]
6.

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

Shan X, Dunbrack RL Jr, Christopher SA, Kruger WD.

Hum Mol Genet. 2001 Mar 15;10(6):635-43.

PMID:
11230183
[PubMed - indexed for MEDLINE]
Free Article
7.

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.

Singh LR, Gupta S, Honig NH, Kraus JP, Kruger WD.

PLoS Genet. 2010 Jan;6(1):e1000807. doi: 10.1371/journal.pgen.1000807. Epub 2010 Jan 8.

PMID:
20066033
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG.

Hum Mutat. 2004 Oct;24(4):352-3.

PMID:
15365998
[PubMed - indexed for MEDLINE]
9.

Correction of disease-causing CBS mutations in yeast.

Shan X, Kruger WD.

Nat Genet. 1998 May;19(1):91-3.

PMID:
9590298
[PubMed - indexed for MEDLINE]
10.

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

Janosík M, Oliveriusová J, Janosíková B, Sokolová J, Kraus E, Kraus JP, Kozich V.

Am J Hum Genet. 2001 Jun;68(6):1506-13. Epub 2001 May 15.

PMID:
11359213
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.

de Franchis R, Kraus E, Kozich V, Sebastio G, Kraus JP.

Hum Mutat. 1999;13(6):453-7.

PMID:
10408774
[PubMed - indexed for MEDLINE]
12.

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ.

Am J Hum Genet. 1999 Jul;65(1):59-67.

PMID:
10364517
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.

Hum Mutat. 1999;13(5):362-75. Review.

PMID:
10338090
[PubMed - indexed for MEDLINE]
14.

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.

Kruger WD, Cox DR.

Proc Natl Acad Sci U S A. 1994 Jul 5;91(14):6614-8.

PMID:
8022826
[PubMed - indexed for MEDLINE]
Free PMC Article
15.
16.

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

Maclean KN, Gaustadnes M, Oliveriusová J, Janosík M, Kraus E, Kozich V, Kery V, Skovby F, Rüdiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP.

Hum Mutat. 2002 Jun;19(6):641-55.

PMID:
12007221
[PubMed - indexed for MEDLINE]
17.
18.

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.

PMID:
20490928
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

Smith DE, Mendes MI, Kluijtmans LA, Janssen MC, Smulders YM, Blom HJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Dec 12;911:186-91. doi: 10.1016/j.jchromb.2012.10.041. Epub 2012 Nov 3.

PMID:
23217323
[PubMed - indexed for MEDLINE]
20.

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Krijt J, Kopecká J, Hnízda A, Moat S, Kluijtmans LA, Mayne P, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):49-55. doi: 10.1007/s10545-010-9178-3. Epub 2010 Sep 7.

PMID:
20821054
[PubMed - indexed for MEDLINE]
Free PMC Article

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