Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1
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...
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sg-ntu-dr.10356-1069152023-02-28T16:56:33Z Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 Guan, Siyu Tan, Suet-Mien Li, Yan Torres, Jaume Uzel, Gulbu Xiang, Liming Law, S.K. Alex School of Biological Sciences School of Physical and Mathematical Sciences DRNTU::Science::Biological sciences::Molecular biology 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. Accepted version 2015-03-09T03:57:27Z 2019-12-06T22:20:57Z 2015-03-09T03:57:27Z 2019-12-06T22:20:57Z 2015 2015 Journal Article 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. 1079-9796 https://hdl.handle.net/10356/106915 http://hdl.handle.net/10220/25195 10.1016/j.bcmd.2014.11.005 en Blood cells, molecules, and diseases © 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: [http://dx.doi.org/10.1016/j.bcmd.2014.11.005]. application/pdf |
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DRNTU::Science::Biological sciences::Molecular biology Guan, Siyu Tan, Suet-Mien Li, Yan Torres, Jaume Uzel, Gulbu Xiang, Liming Law, S.K. Alex Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| description |
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. |
| author2 |
School of Biological Sciences |
| author_facet |
School of Biological Sciences Guan, Siyu Tan, Suet-Mien Li, Yan Torres, Jaume Uzel, Gulbu Xiang, Liming Law, S.K. Alex |
| format |
Article |
| author |
Guan, Siyu Tan, Suet-Mien Li, Yan Torres, Jaume Uzel, Gulbu Xiang, Liming Law, S.K. Alex |
| author_sort |
Guan, Siyu |
| title |
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| title_short |
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| title_full |
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| title_fullStr |
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| title_full_unstemmed |
Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1 |
| title_sort |
characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (lad)-1 |
| publishDate |
2015 |
| url |
https://hdl.handle.net/10356/106915 http://hdl.handle.net/10220/25195 |
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1759857906642059264 |