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Volumn 105, Issue 4, 2012, Pages 590-595

Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao

Author keywords

Austronesian; Chinese; Cystathionine beta synthase; Homocystinuria; Prevalence; Taiwanese

Indexed keywords

ARTICLE; CLINICAL ARTICLE; GENE MUTATION; HOMOCYSTINURIA; HOMOZYGOTE; HUMAN; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL; TAIWAN;

EID: 84862807404     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.021     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 0000167774 scopus 로고    scopus 로고
    • Disorders of transsulfuration
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Mudd S.H., Levy H.L., Skovby F. Disorders of transsulfuration. The Metabolic and Molecular Bases of Inherited Disease 2009, 1279-1327. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2009) The Metabolic and Molecular Bases of Inherited Disease , pp. 1279-1327
    • Mudd, S.H.1    Levy, H.L.2    Skovby, F.3
  • 2
    • 0031801414 scopus 로고    scopus 로고
    • Newborn screening for homocystinuria: Irish and world experience
    • Naughten E.R., Yap S., Mayne P.D. Newborn screening for homocystinuria: Irish and world experience. Eur. J. Pediatr. 2000, 157:S84-S87.
    • (2000) Eur. J. Pediatr. , vol.157
    • Naughten, E.R.1    Yap, S.2    Mayne, P.D.3
  • 5
    • 0034971293 scopus 로고    scopus 로고
    • High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application
    • Linnebank M., Homberger A., Junker R., Nowak-Goettl U., Harms E., Koch H.G. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. Thromb. Haemost. 2001, 85:986-988.
    • (2001) Thromb. Haemost. , vol.85 , pp. 986-988
    • Linnebank, M.1    Homberger, A.2    Junker, R.3    Nowak-Goettl, U.4    Harms, E.5    Koch, H.G.6
  • 8
    • 0347624606 scopus 로고    scopus 로고
    • 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. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. Hum. Mutat. 2003, 22:434-441.
    • (2003) Hum. Mutat. , vol.22 , pp. 434-441
    • Kruger, W.D.1    Wang, L.2    Jhee, K.H.3    Singh, R.H.4    Elsas, L.J.5
  • 9
    • 0023611853 scopus 로고
    • Cystathionine beta-synthase (human)
    • Kraus J.P. Cystathionine beta-synthase (human). Methods Enzymol. 1987, 143:388-394.
    • (1987) Methods Enzymol. , vol.143 , pp. 388-394
    • Kraus, J.P.1
  • 10
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 1976, 72:248-254.
    • (1976) Anal. Biochem. , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 11
    • 28844436017 scopus 로고    scopus 로고
    • 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. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. J. Hum. Genet. 2005, 50:648-654.
    • (2005) J. Hum. Genet. , vol.50 , pp. 648-654
    • Lee, S.J.1    Lee, D.H.2    Yoo, H.W.3    Koo, S.K.4    Park, E.S.5    Park, J.W.6    Lim, H.G.7    Jung, S.C.8
  • 16
    • 0035421273 scopus 로고    scopus 로고
    • 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. Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J. 2001, 20:3910-3916.
    • (2001) EMBO J. , vol.20 , pp. 3910-3916
    • Meier, M.1    Janosik, M.2    Kery, V.3    Kraus, J.P.4    Burkhard, P.5
  • 17
    • 0035794209 scopus 로고    scopus 로고
    • Characterization of transsulfuration and cysteine biosynthetic pathways in the protozoan hemoflagellate, Trypanosoma cruzi. Isolation and molecular characterization of cystathionine beta-synthase and serine acetyltransferase from Trypanosoma
    • Nozaki T., Shigeta Y., Saito-Nakano Y., Imada M., Kruger W.D. Characterization of transsulfuration and cysteine biosynthetic pathways in the protozoan hemoflagellate, Trypanosoma cruzi. Isolation and molecular characterization of cystathionine beta-synthase and serine acetyltransferase from Trypanosoma. J. Biol. Chem. 2001, 276:6516-6523.
    • (2001) J. Biol. Chem. , vol.276 , pp. 6516-6523
    • Nozaki, T.1    Shigeta, Y.2    Saito-Nakano, Y.3    Imada, M.4    Kruger, W.D.5
  • 18
    • 0034730104 scopus 로고    scopus 로고
    • Domain architecture of the heme-independent yeast cystathionine beta-synthase provides insights into mechanisms of catalysis and regulation
    • Jhee K.H., McPhie P., Miles E.W. Domain architecture of the heme-independent yeast cystathionine beta-synthase provides insights into mechanisms of catalysis and regulation. Biochemistry 2000, 39:10548-10556.
    • (2000) Biochemistry , vol.39 , pp. 10548-10556
    • Jhee, K.H.1    McPhie, P.2    Miles, E.W.3
  • 20
    • 3142749051 scopus 로고    scopus 로고
    • Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations
    • Miles E.W., Kraus J.P. Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J. Biol. Chem. 2004, 279:29871-29874.
    • (2004) J. Biol. Chem. , vol.279 , pp. 29871-29874
    • Miles, E.W.1    Kraus, J.P.2
  • 21
    • 0037073791 scopus 로고    scopus 로고
    • Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation
    • Oliveriusová J., Kery V., Maclean K.N., Kraus J.P. Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation. J. Biol. Chem. 2002, 277:48386-48394.
    • (2002) J. Biol. Chem. , vol.277 , pp. 48386-48394
    • Oliveriusová, J.1    Kery, V.2    Maclean, K.N.3    Kraus, J.P.4
  • 22
    • 0032528375 scopus 로고    scopus 로고
    • Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences
    • Kery V., Poneleit L., Kraus J.P. Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch. Biochem. Biophys. 1998, 355:222-232.
    • (1998) Arch. Biochem. Biophys. , vol.355 , pp. 222-232
    • Kery, V.1    Poneleit, L.2    Kraus, J.P.3
  • 24
    • 0031798556 scopus 로고    scopus 로고
    • Correction of disease-causing CBS mutations in yeast
    • Shan X., Kruger W.D. Correction of disease-causing CBS mutations in yeast. Nat. Genet. 1998, 19:91-93.
    • (1998) Nat. Genet. , vol.19 , pp. 91-93
    • Shan, X.1    Kruger, W.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.