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Volumn 25, Issue 9-11, 2006, Pages 1087-1091

A Turkish case with molybdenum cofactor deficiency

Author keywords

MOCS1 gene; MOCS1A; Molybdenum cofactor deficiency; Mutation; Triosephosphate isomerase barrel

Indexed keywords

ARGININE; GEPHYRIN; PROTEIN DERIVATIVE; PROTEIN MOCS1; PROTEIN MOCS2; PROTEIN MOCS3; TRIOSEPHOSPHATE ISOMERASE; UNCLASSIFIED DRUG;

EID: 33750432525     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770600894022     Document Type: Article
Times cited : (8)

References (9)
  • 1
    • 0019309811 scopus 로고
    • Inborn errors of molybdenum metabolism: Combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor
    • Johnson, J.L.; Waud, W.R.; Rajagopalan, K.V.; Duran, M.; Beemer, F.A.; Wadman, S.K. Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc. Natl. Acad. Sci. USA 1980, 77, 3715-3719.
    • (1980) Proc. Natl. Acad. Sci. USA , vol.77 , pp. 3715-3719
    • Johnson, J.L.1    Waud, W.R.2    Rajagopalan, K.V.3    Duran, M.4    Beemer, F.A.5    Wadman, S.K.6
  • 4
    • 0032436716 scopus 로고    scopus 로고
    • Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
    • Reiss, J.; Christensen, E.; Kurlemann, G.; Zabot, M.T.; Dorche, C. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum. Genet. 1998, 103, 639-644.
    • (1998) Hum. Genet. , vol.103 , pp. 639-644
    • Reiss, J.1    Christensen, E.2    Kurlemann, G.3    Zabot, M.T.4    Dorche, C.5
  • 5
    • 0033237812 scopus 로고    scopus 로고
    • Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B
    • Reiss, J.; Dorche, C.; Stallmeyer, B.; Mendel, R.R.; Cohen, N.; Zabot, M.T. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet. 1999, 64, 706-711.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 706-711
    • Reiss, J.1    Dorche, C.2    Stallmeyer, B.3    Mendel, R.R.4    Cohen, N.5    Zabot, M.T.6
  • 7
    • 0035166780 scopus 로고    scopus 로고
    • A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
    • Reiss, J.; Gross-Hardt, S.; Christensen, E.; Schmidt, P.; Mendel, R.R.; Schwarz, G. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am. J. Hum. Genet. 2001, 68, 208-213.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 208-213
    • Reiss, J.1    Gross-Hardt, S.2    Christensen, E.3    Schmidt, P.4    Mendel, R.R.5    Schwarz, G.6
  • 8
    • 4444346402 scopus 로고    scopus 로고
    • Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans
    • Hanzelmann, P.; Schindelin, H. Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. Proc. Natl. Acad. Sci. USA 2004, 101, 12870-12875.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 12870-12875
    • Hanzelmann, P.1    Schindelin, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.