M.J.
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Retrieved from PubMed 24.09.2017, 12:21
1: Janošík M, Sokolová J, Janošíková B, Krijt J, Klatovská V, Kožich V.
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B(6) nonresponsiveness and a common ancestral haplotype.
Hum Mutat. 2004 Oct;24(4):352-3.
PMID: 15365998 [PubMed - in process]
2: Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG.
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B(6) nonresponsiveness and a common ancestral haplotype.
Hum Mutat. 2004 Oct;24(4):352-3.
PMID: 15365998 [PubMed - in process]
3: Orendae M, Pronicka E, Kubalska J, Janosik M, Sokolova J, Linnebank M, Koch HG, Kozich V.
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Hum Mutat. 2004 Jun;23(6):631.
PMID: 15146473 [PubMed - in process]
4: Maclean KN, Janosik M, Kraus E, Kozich V, Allen RH, Raab BK, Kraus JP.
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.
J Cell Physiol. 2002 Jul;192(1):81-92.
PMID: 12115739 [PubMed - indexed for MEDLINE]
5: Maclean KN, Gaustadnes M, Oliveriusova J, Janosik M, Kraus E, Kozich V, Kery V, Skovby F, Rudiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP.
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Hum Mutat. 2002 Jun;19(6):641-55.
PMID: 12007221 [PubMed - indexed for MEDLINE]
6: Janosik M, Kery V, Gaustadnes M, Maclean KN, Kraus JP.
Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.
Biochemistry. 2001 Sep 4;40(35):10625-33.
PMID: 11524006 [PubMed - indexed for MEDLINE]
7: Meier M, Janosik M, Kery V, Kraus JP, Burkhard P.
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
EMBO J. 2001 Aug 1;20(15):3910-6.
PMID: 11483494 [PubMed - indexed for MEDLINE]
8: Janosik M, Oliveriusova J, Janosikova B, Sokolova J, Kraus E, Kraus JP, Kozich V.
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Am J Hum Genet. 2001 Jun;68(6):1506-13. Epub 2001 May 15.
PMID: 11359213 [PubMed - indexed for MEDLINE]
9: Vadon-Le Goff S, Delaforge M, Boucher JL, Janosik M, Kraus JP, Mansuy D.
Coordination chemistry of the heme in cystathionine beta-synthase: formation of iron(II)-isonitrile complexes.
Biochem Biophys Res Commun. 2001 May 4;283(2):487-92.
PMID: 11327727 [PubMed - indexed for MEDLINE]
10: Janosik M, Meier M, Kery V, Oliveriusova J, Burkhard P, Kraus JP.
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Acta Crystallogr D Biol Crystallogr. 2001 Feb;57(Pt 2):289-91.
PMID: 11173483 [PubMed - indexed for MEDLINE]
11: Maclean KN, Janosik M, Oliveriusova J, Kery V, Kraus JP.
Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase.
J Inorg Biochem. 2000 Aug 31;81(3):161-71.
PMID: 11051561 [PubMed - indexed for MEDLINE]
12: Bruno S, Schiaretti F, Burkhard P, Kraus JP, Janosik M, Mozzarelli A.
Functional properties of the active core of human cystathionine beta-synthase crystals.
J Biol Chem. 2001 Jan 5;276(1):16-9.
PMID: 11042162 [PubMed - indexed for MEDLINE]
13: Kraus JP, Janosik 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.
Cystathionine beta-synthase mutations in homocystinuria.
Hum Mutat. 1999;13(5):362-75. Review.
PMID: 10338090 [PubMed - indexed for MEDLINE]
14: Kozich V, Janosik M, Sokolova J, Oliveriusova J, Orendac M, Kraus JP, Elleder D.
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
J Inherit Metab Dis. 1997 Jul;20(3):363-6. No abstract available.
PMID: 9266356 [PubMed - indexed for MEDLINE]

Presentations

1 Kožich V, Janošík M, Sokolová J., Bukovská G, and Kraus JP: Molecular study in a B6 non-responsive Czech patient with homocystinuria. Poster presentation. International Conference of Homocysteine Metabolism: From Basic Science to Clinical Medicine, Dromoland Castle, Ireland, 2.-6.7.1995.

2 Kožich V, Janošík M, Sokolová J, Orenáe M, Oliveriusová J, Elleder D: Analysis of mutations in CBS gene in Czech and Slovak patients with homocystinuria. Poster presentation. 11th workshop "Inborn Errors of Metabolism", Stará Lesná, SR, 30.-31.5.1996.

3 Kožich V, Janošík M, Sokolová J, Orendáe M, Oliveriusová J, Kraus JP, Elleder D: Analysis of CBS alleles in Czech and Slovak patients with homocystinuria. Poster presentation. 34th symposium SSIEM, Cardiff, UK, 10.-13.9.1996.

4 Janošík M, Sokolová J, Orendáe M, Oliveriusová J, Kraus JP, Elleder D, Kožich V: Analysis of mutations in Czech and Slovak patients with homocystinuria. Oral presentation. The days of DNA diagnostics, Prague, CR, 11.12.1996.

5 Janošík M, Kožich V: Screening for mutations in Cystathionine beta-synthase Gene in Patients with Homocystinuria. Poster presentation. 3rd scientific conference of postgraduate students with international participation, Prague, Lichtenštejn palace, 28.4.1997.

6 Janošík M, Kožich V, Sokolová J, Mušková B and Kraus JP: Screening for mutations in cystathionine b-synthase gene in patients with homocystinuria. Poster presentation. 12th workshop "Inborn Errors of Metabolism", Brno, CR, 29.-31.5. 1997.

7 Kožich V, Janošík M, Sokolová J, Mandel H, Kraus JP: Different Molecular Consequences Of Intronic And Exonic Deletions In The CBS Gene. Poster presentation. 35th symposium SSIEM, Gothenburg, Sweden, 2.-5.9.1997.

8 Janošík M, Sokolová J, Mušková B, Kraus JP, Kožich V.: Unstable CBS mRNA resulting from two mutations in cis: direct sequencing of the entire coding region in genomic DNA samples. Poster and oral presentations. 2nd International Conference of Homocysteine Metabolism, Nijmegen, Netherland, 26.-29.4.1998.

9 Janošík M, Mušková B, Kožich V, Kraus JP: Unstable allele in a homocystinuric patient: nonsense mediated mRNA decay occurs late in RNA processing. Poster presentation. The American Society of Human Genetics, 48th Annual Meeting, Denver, Colorado, USA, 27.-31.10.1998.

10 Maclean KN, Janošík M, Kraus E, Kraus JP: Modeling the regulation of Human Cystathionine b-synthase (CBS) in Saccharomyses Cerevisiae. Poster presentation. The American Society for Microbiology, Yeast Genetics and Human Disease II, Vancouver, British Columbia, 24.-27.6.1999.

11 Maclean KN, Janošík M, Kraus E, Kraus JP: Regulation of the human cystathionine b-synthase (CBS) gene. Poster Presentation. The American Society of Human Genetics, 49th Annual Meeting, San Francisco, California, USA, 19.-23.10.1999.

12 Janošík M, Mušková B, Orendáe M, and Kožich V: Nonsense Mediated Decay - an unstable allele in patient with homocystinuria. Poster presentation. 15th workshop "Inborn Errors of Metabolism", Tále, SR, 17. -19.5.2000.

13 Kraus JP, Kery V, Janošík M, Maclean KN, Oliveriusova J, Kozich V, and Kraus E: Mutation analysis in classical homocystinuria due to CBS deficiency. Society For Inherited Metabolic Disorders, Wyndham Miami Beach Resort, Florida, Usa, 4.-7. 3. 2001.

14 Janošík M, Oliveriusová J, Novotná Z, Kraus JP, and Kožich V.: Protein aggregation - a common cause of cystathionine beta-synthase deficiency. Poster presentation. 16th workshop "Inborn Errors of Metabolism", Brno, CR, 9.-11.5.2001.

15 Janošík M, Oliveriusová J, Novotná Z, Kraus JP, and Kožich V.: Protein aggregation - a common cause of cystathionine beta-synthase deficiency. Poster presentation. 10th International Congress of Human Genetics, Vienna, Austria, 15. -19.5.2001.

16 Janošík M, Oliveriusová J, Novotná Z, Elleder M, Kraus JP, and Kožich V.: Aggregation - a common response to mutations in the cystathionine beta-synthase gene. Poster presentation. 3rd International Conference of Homocysteine Metabolism, Sorrento, Italy, 1.-5.7.2001.

17 Janošík M, Novotná Z, Elleder M, and Kožich V.: Effect of chemical chaperones on cystathionine beta-synthase misfolding and aggregation. Poster presentation. 17th workshop "Inborn Errors of Metabolism". Piestany, Slovakia, 15.-17.5.2002.

18 Janošík M, Novotná Z, Elleder M, and Kožich V.: Effect of chemical chaperones on cystathionine beta-synthase misfolding and aggregation. Poster presentation. FASEB Summer Research Conferences - Protein Folding in Cell. Vermont Academy, Saxtons River, Vermont, USA, 27.7.-1.8.2002.

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