Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration

Wiskott Aldrich syndrome (WAS), an X-linked immunodeficiency, results from loss-of-function mutations in the human hematopoietic cytoskeletal regulator gene WAS. Many missense mutations in the Ena Vasp homology1 (EVH1) domain preserve low-level WAS protein (WASp) expression and confer a milder clini...

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Autori principali: Worth, Austen J. J., Metelo, Joao, Bouma, Gerben, Moulding, Dale, Fritzsche, Marco, Vernay, Bertrand, Charras, Guillaume, Cory, Giles O. C., Thrasher, Adrian J., Burns, Siobhan O.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2013
Soggetti:
Immunobiology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3779380/
https://ncbi.nlm.nih.gov/pubmed/23160469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-01-403857
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