Article
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Nature communications - 3 Apr 2017
Kahr Walter H A, Pluthero Fred G, Elkadri Abdul, Warner Neil, Drobac Marko, Chen Chang Hua, Lo Richard W, Li Ling, Li Ren, Li Qi, Thoeni Cornelia, Pan Jie, Leung Gabriella, Lara-Corrales Irene, Murchie Ryan, Cutz Ernest, Laxer Ronald M, Upton Julia, Roifman Chaim M, Yeung Rae S M, Brumell John H, Muise Aleixo M
Abstract excerpt
Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in ARPC1B (p.Val91Trpfs*30). Platelet lysates reveal no ARPC1B protein and greatly reduced Arp2/3 complex. Missense...
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