Article
PLS3 mutations in X-linked osteoporosis with fractures.
The New England journal of medicine - 17 Oct 2013
van Dijk Fleur S, Zillikens M Carola, Micha Dimitra, Riessland Markus, Marcelis Carlo L M, de Die-Smulders Christine E, Milbradt Janine, Franken Anton A, Harsevoort Arjan J, Lichtenbelt Klaske D, Pruijs Hans E, Rubio-Gozalbo M Estela, Zwertbroek Rolf, Moutaouakil Youssef, Egthuijsen Jaqueline, Hammerschmidt Matthias, Bijman Renate, Semeins Cor M, Bakker Astrid D, Everts Vincent, Klein-Nulend Jenneke, Campos-Obando Natalia, Hofman Albert, te Meerman Gerard J, Verkerk Annemieke J M H, Uitterlinden André G, Maugeri Alessandra, Sistermans Erik A, Waisfisz Quinten, Meijers-Heijboer Hanne, Wirth Brunhilde, Simon Marleen E H, Pals Gerard
Abstract excerpt
Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families...
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