A novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3.

doi:10.1016/j.jtha.2023.10.013

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Article

A novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3.

Journal of thrombosis and haemostasis : JTH - 1 Feb 2024

Xu Zhen, Jobe Shawn M, Ma Yan-Qing, Shavit Jordan A

Abstract excerpt

BACKGROUND: Leukocyte adhesion deficiency III (LAD-III) is a rare autosomal recessive syndrome characterized by functional deficiencies of platelets and leukocytes that occurs due to mutations in the FERMT3 gene encoding kindlin-3. Kindlin-3 is a FERM domain-containing adaptor protein that is essential in integrin activation. We have previously demonstrated that the FERM domain of kindlin-3 is structurally...

Topics

Animals
Child, Preschool
Female
Humans
Mice
Cell Adhesion
Cytoskeletal Proteins
FERM Domains
Leukocyte-Adhesion Deficiency Syndrome
Leukocytes
Mutation
Platelet Glycoprotein GPIIb-IIIa Complex

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Identifiers

PMID: 37866516
DOI: 10.1016/j.jtha.2023.10.013
PMCID: PMC10872323

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