STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE

Research output: Contribution to journalArticle

Standard

STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE. / Vihinen, Mauno; VETRIE, D; MANIAR, HS; OCHS, HD; ZHU, QL; VORECHOVSKY, I; WEBSTER, ADB; NOTARANGELO, LD; NILSSON, L; SOWADSKI, JM; SMITH, CIE.

In: Proceedings of the National Academy of Sciences, Vol. 91, No. 26, 1994, p. 12803-12807.

Research output: Contribution to journalArticle

Harvard

Vihinen, M, VETRIE, D, MANIAR, HS, OCHS, HD, ZHU, QL, VORECHOVSKY, I, WEBSTER, ADB, NOTARANGELO, LD, NILSSON, L, SOWADSKI, JM & SMITH, CIE 1994, 'STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE', Proceedings of the National Academy of Sciences, vol. 91, no. 26, pp. 12803-12807. https://doi.org/10.1073/pnas.91.26.12803

APA

CBE

Vihinen M, VETRIE D, MANIAR HS, OCHS HD, ZHU QL, VORECHOVSKY I, WEBSTER ADB, NOTARANGELO LD, NILSSON L, SOWADSKI JM, SMITH CIE. 1994. STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE. Proceedings of the National Academy of Sciences. 91(26):12803-12807. https://doi.org/10.1073/pnas.91.26.12803

MLA

Vancouver

Author

Vihinen, Mauno ; VETRIE, D ; MANIAR, HS ; OCHS, HD ; ZHU, QL ; VORECHOVSKY, I ; WEBSTER, ADB ; NOTARANGELO, LD ; NILSSON, L ; SOWADSKI, JM ; SMITH, CIE. / STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE. In: Proceedings of the National Academy of Sciences. 1994 ; Vol. 91, No. 26. pp. 12803-12807.

RIS

TY - JOUR

T1 - STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE

AU - Vihinen, Mauno

AU - VETRIE, D

AU - MANIAR, HS

AU - OCHS, HD

AU - ZHU, QL

AU - VORECHOVSKY, I

AU - WEBSTER, ADB

AU - NOTARANGELO, LD

AU - NILSSON, L

AU - SOWADSKI, JM

AU - SMITH, CIE

PY - 1994

Y1 - 1994

N2 - X-linked agammaglobulinemia (XLA) is a hereditary defect of B-cell differentiation in man caused by deficiency of Bruton tyrosine kinase (BTK). A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA. As Arg-525 of BTK has been thought to functionally substitute for a critical lysine residue in protein-serine kinases, the mutation Arg-525-->Gln was studied and found to abrogate the tyrosine kinase activity of BTK. All of the eight mutations (Lys-430-->Glu, Arg-520-->Glu, Arg-525-->Gln, Arg-562-->Pro, Ala-582-->Val, Glu-589-->Gly, Gly-594-->Glu, and Gly-613-->Asp) were located on one face of the BTK kinase domain, indicating structural clustering of functionally important residues.

AB - X-linked agammaglobulinemia (XLA) is a hereditary defect of B-cell differentiation in man caused by deficiency of Bruton tyrosine kinase (BTK). A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patients with XLA. As Arg-525 of BTK has been thought to functionally substitute for a critical lysine residue in protein-serine kinases, the mutation Arg-525-->Gln was studied and found to abrogate the tyrosine kinase activity of BTK. All of the eight mutations (Lys-430-->Glu, Arg-520-->Glu, Arg-525-->Gln, Arg-562-->Pro, Ala-582-->Val, Glu-589-->Gly, Gly-594-->Glu, and Gly-613-->Asp) were located on one face of the BTK kinase domain, indicating structural clustering of functionally important residues.

KW - BRUTON TYROSINE KINASE

KW - BTK

KW - CYTOPLASMIC TYROSINE KINASE

KW - SIGNAL

KW - TRANSDUCTION

U2 - 10.1073/pnas.91.26.12803

DO - 10.1073/pnas.91.26.12803

M3 - Article

VL - 91

SP - 12803

EP - 12807

JO - Proceedings of the National Academy of Sciences

JF - Proceedings of the National Academy of Sciences

SN - 1091-6490

IS - 26

ER -