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Items: 1 to 20 of 126

1.

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP.

Hum Mutat. 2010 Jul;31(7):809-19. doi: 10.1002/humu.21273.

2.

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.

3.

Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.

Casique L, Kabil O, Banerjee R, Martinez JC, De Lucca M.

Gene. 2013 Nov 15;531(1):117-24. doi: 10.1016/j.gene.2013.08.021. Epub 2013 Aug 24.

4.

Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.

Majtan T, Liu L, Carpenter JF, Kraus JP.

J Biol Chem. 2010 May 21;285(21):15866-73. doi: 10.1074/jbc.M110.107722. Epub 2010 Mar 22.

5.

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.

6.

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Melenovská P, Kopecká J, Krijt J, Hnízda A, Raková K, Janošík M, Wilcken B, Kožich V.

J Inherit Metab Dis. 2015 Mar;38(2):287-94. doi: 10.1007/s10545-014-9781-9. Epub 2014 Oct 21.

PMID:
25331909
7.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ.

J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23.

PMID:
23974653
8.
9.

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P.

Hum Mutat. 2014 Oct;35(10):1195-202. doi: 10.1002/humu.22616. Epub 2014 Jul 31.

PMID:
25044645
10.

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
11.

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB.

Eur J Hum Genet. 1997 Jan-Feb;5(1):15-21.

PMID:
9156316
15.

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
16.

Conformational properties of nine purified cystathionine β-synthase mutants.

Hnízda A, Majtan T, Liu L, Pey AL, Carpenter JF, Kodíček M, Kožich V, Kraus JP.

Biochemistry. 2012 Jun 12;51(23):4755-63. doi: 10.1021/bi300435e. Epub 2012 May 30. Erratum in: Biochemistry. 2012 Jul 10;51(27):5540.

17.

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
18.

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

Hnízda A, Jurga V, Raková K, Kožich V.

J Inherit Metab Dis. 2012 May;35(3):469-77. doi: 10.1007/s10545-011-9407-4. Epub 2011 Nov 9.

19.

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

Kluijtmans LA, Boers GH, Stevens EM, Renier WO, Kraus JP, Trijbels FJ, van den Heuvel LP, Blom HJ.

J Clin Invest. 1996 Jul 15;98(2):285-9.

20.

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

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