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Title: Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1
Authors: Guan, Siyu
Tan, Suet-Mien
Li, Yan
Torres, Jaume
Uzel, Gulbu
Xiang, Liming
Law, S.K. Alex
Keywords: DRNTU::Science::Biological sciences::Molecular biology
Issue Date: 2015
Source: Guan, S., Tan, S.-M., Li, Y., Torres, J., Uzel, G., Xiang, L., et al. (2015). Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. Blood cells, molecules, and diseases, 54(2), 177-182.
Series/Report no.: Blood cells, molecules, and diseases
Abstract: Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the β2 integrins. Integrins with the β2-G150D mutation fail to bind ligands, possibly due to the failure of the α1 segment of the βI domain to assume an α-helical structure. Integrins with the β2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The β2-S453N and β2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants.
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2014.11.005
Schools: School of Biological Sciences 
School of Physical and Mathematical Sciences 
Rights: © 2014 Elsevier Inc. This is the author created version of a work that has been peer reviewed and accepted for publication by Blood Cells, Molecules, and Diseases, Elsevier Inc. It incorporates referee’s comments but changes resulting from the publishing process, such as copyediting, structural formatting, may not be reflected in this document. The published version is available at: [].
Fulltext Permission: open
Fulltext Availability: With Fulltext
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