"Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells."
Kraus J.P. , Le K. , Swaroop M. , Ohura T. , Tahara T. , Rosenberg L.E. , Roper M.D. , Kozich V.
Hum. Mol. Genet.2:1633-1638(1993) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs."
Chasse J.-F. , Paly E. , Paris D. , Paul V. , Sinet P.-M. , Kamoun P. , London J.
Biochem. Biophys. Res. Commun.211:826-832(1995) [PubMed] [Europe PMC] [Abstract]

"A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes."
Kruger W.D. , Cox D.R.
Proc. Natl. Acad. Sci. U.S.A.91:6614-6618(1994) [PubMed] [Europe PMC] [Abstract]

"Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing."
Chasse J.-F. , Paul V. , Escanez R. , Kamoun P. , London J.
Mamm. Genome8:917-921(1997) [PubMed] [Europe PMC] [Abstract]

"The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms."
Kraus J.P. , Oliveriusova J. , Sokolova J. , Kraus E. , Vlcek C. , de Franchis R. , Maclean K.N. , Bao L. , Bukovska G. , Patterson D. , Paces V. , Ansorge W. , Kozich V.
Genomics52:312-324(1998) [PubMed] [Europe PMC] [Abstract]

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) to the EMBL/GenBank/DDBJ databases

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits."
Kraus J.P. , Packman S. , Fowler B. , Rosenberg L.E.
J. Biol. Chem.253:6523-6528(1978) [PubMed] [Europe PMC] [Abstract]

"Human cystathionine beta-synthase is a target for sumoylation."
Kabil O. , Zhou Y. , Banerjee R.
Biochemistry45:13528-13536(2006) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein."
Meier M. , Janosik M. , Kery V. , Kraus J.P. , Burkhard P.
EMBO J.20:3910-3916(2001) [PubMed] [Europe PMC] [Abstract]

"Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme."
Taoka S. , Lepore B.W. , Kabil O. , Ojha S. , Ringe D. , Banerjee R.
Biochemistry41:10454-10461(2002) [PubMed] [Europe PMC] [Abstract]

"Cystathionine beta-synthase mutations in homocystinuria."
Kraus J.P. , Janosik M. , Kozich V. , Mandell R. , Shih V.E. , Sperandeo M.P. , Sebastio G. , de Franchis R. , Andria G. , Kluijtmans L.A.J. , Blom H.J. , Boers G.H.J. , Gordon R.B. , Kamoun P. , Tsai M.Y. , Kruger W.D. , Koch H.G. , Ohura T. , Gaustadnes M. more...
Hum. Mutat.13:362-375(1999) [PubMed] [Europe PMC] [Abstract]

"Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency."
Kozich V. , Kraus J.P.
Hum. Mutat.1:113-123(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular defect in a patient with pyridoxine-responsive homocystinuria."
Kozich V. , de Franchis R. , Kraus J.P.
Hum. Mol. Genet.2:815-816(1993) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria."
Hu F.L. , Gu Z. , Kozich V. , Kraus J.P. , Ramesh V. , Shih V.E.
Hum. Mol. Genet.2:1857-1860(1993) [PubMed] [Europe PMC] [Abstract]

"Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system."
de Franchis R. , Kozich V. , McInnes R. , Kraus J.P.
Hum. Mol. Genet.3:1103-1108(1994) [PubMed] [Europe PMC] [Abstract]

"Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria."
Marble M. , Geraghty M.T. , de Franchis R. , Kraus J.P. , Valle D.
Hum. Mol. Genet.3:1883-1886(1994) [PubMed] [Europe PMC] [Abstract]

"Komrower Lecture. Molecular basis of phenotype expression in homocystinuria."
Kraus J.P.
J. Inherit. Metab. Dis.17:383-390(1994) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype."
Shih V.E. , Fringer J.M. , Mandell R. , Kraus J.P. , Berry G.T. , Heidenreich R.A. , Korson M.S. , Levy H.L. , Ramesh V.
Am. J. Hum. Genet.57:34-39(1995) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations."
Sebastio G. , Sperandeo M.P. , Panico M. , de Franchis R. , Kraus J.P. , Andria G.
Am. J. Hum. Genet.56:1324-1333(1995) [PubMed] [Europe PMC] [Abstract]

"Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients."
Kluijtmans L.A.J. , Blom H.J. , Boers G.H.J. , van Oost B.A. , Trijbels F.J.M. , van den Heuvel L.P.W.J.
Hum. Genet.96:249-250(1995) [PubMed] [Europe PMC] [Abstract]

"A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene."
Kruger W.D. , Cox D.R.
Hum. Mol. Genet.4:1155-1161(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11."
Sperandeo M.P. , Panico M. , Pepe A. , Candito M. , de Franchis R. , Kraus J.P. , Andria G. , Sebastio G.
J. Inherit. Metab. Dis.18:211-214(1995) [PubMed] [Europe PMC] [Abstract]

"Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient."
Kluijtmans L.A.J. , Boers G.H.J. , Stevens E.M.B. , Renier W.O. , Kraus J.P. , Trijbels F.J.M. , van den Heuvel L.P.W.J. , Blom H.J.
J. Clin. Invest.98:285-289(1996) [PubMed] [Europe PMC] [Abstract]

"Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations."
Sperandeo M.P. , Candito M. , Sebastio G. , Rolland M.O. , Turc-Carel C. , Giudicelli H. , Dellamonica P. , Andria G.
J. Inherit. Metab. Dis.19:351-356(1996) [PubMed] [Europe PMC] [Abstract]

"Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria."
Dawson P.A. , Cox A.J. , Emmerson B.T. , Dudman N.P.B. , Kraus J.P. , Gordon R.B.
Eur. J. Hum. Genet.5:15-21(1997) [PubMed] [Europe PMC] [Abstract]

"Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria."
Kim C.E. , Gallagher P.M. , Guttormsen A.B. , Refsum H. , Ueland P.M. , Ose L. , Foelling I. , Whitehead A.S. , Tsai M.Y. , Kruger W.D.
Hum. Mol. Genet.6:2213-2221(1997) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients."
Aral B. , Coude M. , London J. , Aupetit J. , Chasse J.-F. , Zabot M.-T. , Chadefaux-Vekemans B. , Kamoun P.
Hum. Mutat.9:81-82(1997) [PubMed] [Europe PMC] [Abstract]

"Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99."
Kozich V. , Janosik M. , Sokolova J. , Oliveriusova J. , Orendac M. , Kraus J.P. , Elleder D.
J. Inherit. Metab. Dis.20:363-366(1997) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the cystathionine beta-synthase gene of homocystinuric patients."
Tsai M.Y. , Wong P.W.K. , Garg U. , Hanson N.Q. , Schwichtenberg K.
Mol. Diagn.2:129-133(1997) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria."
Gordon R.B. , Cox A.J. , Dawson P.A. , Emmerson B.T. , Kraus J.P. , Dudman N.P.
Hum. Mutat.11:332-332(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria."
Gallagher P.M. , Naughten E. , Hanson N.Q. , Schwichtenberg K. , Bignell M. , Yuan M. , Ward P. , Yap S. , Whitehead A.S. , Tsai M.Y.
Mol. Genet. Metab.65:298-302(1998) [PubMed] [Europe PMC] [Abstract]

"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 J.P.
Hum. Mutat.13:453-457(1999) [PubMed] [Europe PMC] [Abstract]

"Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis."
Gat-Yablonski G. , Mandel H. , Fowler B. , Taleb O. , Sela B.-A.
Hum. Mutat.16:372-372(2000) [PubMed] [Europe PMC] [Abstract]

"Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria."
Janosik M. , Oliveriusova J. , Janosikova B. , Sokolova J. , Kraus E. , Kraus J.P. , Kozich V.
Am. J. Hum. Genet.68:1506-1513(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations."
Castro R. , Heil S.G. , Rivera I. , Jakobs C. , de Almeida I.T. , Blom H.J.
Clin. Genet.60:161-163(2001) [PubMed] [Europe PMC] [Abstract]

"High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations."
Maclean K.N. , Gaustadnes M. , Oliveriusova J. , Janosik M. , Kraus E. , Kozich V. , Kery V. , Skovby F. , Ruediger N. , Ingerslev J. , Stabler S.P. , Allen R.H. , Kraus J.P.
Hum. Mutat.19:641-655(2002) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment."
Gaustadnes M. , Wilcken B. , Oliveriusova J. , McGill J. , Fletcher J. , Kraus J.P. , Wilcken D.E.
Hum. Mutat.20:117-126(2002) [PubMed] [Europe PMC] [Abstract]

"Spectrum of CBS mutations in 16 homocystinuric patients from the iberian peninsula: high prevalence of T191M and absence of I278T or G307S."
Urreizti R. , Balcells S. , Rodes M. , Vilarinho L. , Baldellou A. , Couce M.L. , Munoz C. , Campistol J. , Pinto X. , Vilaseca M.A. , Grinberg D.
Hum. Mutat.22:103-103(2003) [PubMed] [Europe PMC] [Abstract]

"Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype."
Kruger W.D. , Wang L. , Jhee K.H. , Singh R.H. , Elsas L.J. II
Hum. Mutat.22:434-441(2003) [PubMed] [Europe PMC] [Abstract]

"Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria."
Orendac M. , Pronicka E. , Kubalska J. , Janosik M. , Sokolova J. , Linnebank M. , Koch H.G. , Kozich V.
Hum. Mutat.23:631-631(2004) [PubMed] [Europe PMC] [Abstract]

"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 J.P. , Koch H.G.
Hum. Mutat.24:352-353(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of homocystinuria in Brazilian patients."
Porto M.P.R. , Galdieri L.C. , Pereira V.G. , Vergani N. , da Rocha J.C.C. , Micheletti C. , Martins A.M. , Perez A.B.A. , Almeida V.D.
Clin. Chim. Acta362:71-78(2005) [PubMed] [Europe PMC] [Abstract]

"Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria."
Lee S.-J. , Lee D.H. , Yoo H.-W. , Koo S.K. , Park E.-S. , Park J.-W. , Lim H.G. , Jung S.-C.
J. Hum. Genet.50:648-654(2005) [PubMed] [Europe PMC] [Abstract]

"Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations."
Urreizti R. , Asteggiano C. , Cozar M. , Frank N. , Vilaseca M.A. , Grinberg D. , Balcells S.
Hum. Mutat.27:211-211(2006) [PubMed] [Europe PMC] [Abstract]

"Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients."
Cozar M. , Urreizti R. , Vilarinho L. , Grosso C. , Dodelson de Kremer R. , Asteggiano C.G. , Dalmau J. , Garcia A.M. , Vilaseca M.A. , Grinberg D. , Balcells S.
Hum. Mutat.32:835-842(2011) [PubMed] [Europe PMC] [Abstract]

"CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient."
Kwok J.S. , Fung S.L. , Lui G.C. , Law E.L. , Chan M.H. , Leung C.B. , Tang N.L.
Pathology43:81-83(2011) [PubMed] [Europe PMC] [Abstract]