| Target 1 General References |
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- Roth DE, Venta PJ, Tashian RE, Sly WS: Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci U S A. 1992 Mar 1;89(5):1804-8. [PubMed
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- Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE: Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. Am J Hum Genet. 1991 Nov;49(5):1082-90. [PubMed
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- Venta PJ, Montgomery JC, Hewett-Emmett D, Tashian RE: Comparison of the 5' regions of human and mouse carbonic anhydrase II genes and identification of possible regulatory elements. Biochim Biophys Acta. 1985 Dec 18;826(4):195-201. [PubMed
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- Montgomery JC, Venta PJ, Tashian RE, Hewett-Emmett D: Nucleotide sequence of human liver carbonic anhydrase II cDNA. Nucleic Acids Res. 1987 Jun 11;15(11):4687. [PubMed
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- Murakami H, Marelich GP, Grubb JH, Kyle JW, Sly WS: Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II. Genomics. 1987 Oct;1(2):159-66. [PubMed
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- Eriksson AE, Jones TA, Liljas A: Refined structure of human carbonic anhydrase II at 2.0 A resolution. Proteins. 1988;4(4):274-82. [PubMed
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- Eriksson AE, Kylsten PM, Jones TA, Liljas A: Crystallographic studies of inhibitor binding sites in human carbonic anhydrase II: a pentacoordinated binding of the SCN- ion to the zinc at high pH. Proteins. 1988;4(4):283-93. [PubMed
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- Lin KT, Deutsch HF: Human carbonic anhydrases. XII. The complete primary structure of the C isozyme. J Biol Chem. 1974 Apr 25;249(8):2329-37. [PubMed
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- Liljas A, Kannan KK, Bergsten PC, Waara I, Fridborg K, Strandberg B, Carlbom U, Jarup L, Lovgren S, Petef M: Crystal structure of human carbonic anhydrase C. Nat New Biol. 1972 Feb 2;235(57):131-7. [PubMed
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- 6407977 Jones GL, Shaw DC: A chemical and enzymological comparison of the common major human erythrocyte carbonic anhydrase II, its minor component, and a new genetic variant, CA II Melbourne (237 Pro leads to His). Hum Genet. 1983;63(4):392-9.
- 6817747 Jones GL, Sofro AS, Shaw DC: Chemical and enzymological characterization of an Indonesian variant of human erythrocyte carbonic anhydrase II, CAII Jogjakarta (17 Lys leads to Glu). Biochem Genet. 1982 Oct;20(9-10):979-1000.
- 823150 Henderson LE, Henriksson D, Nyman PO: Primary structure of human carbonic anhydrase C. J Biol Chem. 1976 Sep 25;251(18):5457-63.
- 8834238 Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Kato H: A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. Hum Genet. 1996 Apr;97(4):435-7.
- 9143915 Hu PY, Lim EJ, Ciccolella J, Strisciuglio P, Sly WS: Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat. 1997;9(5):383-7.
- 9541386 Stams T, Chen Y, Boriack-Sjodin PA, Hurt JD, Liao J, May JA, Dean T, Laipis P, Silverman DN, Christianson DW: Structures of murine carbonic anhydrase IV and human carbonic anhydrase II complexed with brinzolamide: molecular basis of isozyme-drug discrimination. Protein Sci. 1998 Mar;7(3):556-63.
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