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Gistelinck, Charlotte; Kwon, Ronald Y.; Malfait, Fransiska; Symoens, Sofie; Harris, Matthew P.; Henke, Katrin; Hawkins, Michael B.; Fisher, Shannon; Sips, Patrick; Guillemyn, Brecht; Bek, Jan Willem; Vermassen, Petra; De Saffel, Hanna; Witten, Paul Eckhard; Weis, MaryAnn; De Paepe, Anne; Eyre, David R.; Willaert, Andy; Coucke, Paul J.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

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  • Medientyp: E-Artikel
  • Titel: Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
  • Beteiligte: Gistelinck, Charlotte; Kwon, Ronald Y.; Malfait, Fransiska; Symoens, Sofie; Harris, Matthew P.; Henke, Katrin; Hawkins, Michael B.; Fisher, Shannon; Sips, Patrick; Guillemyn, Brecht; Bek, Jan Willem; Vermassen, Petra; De Saffel, Hanna; Witten, Paul Eckhard; Weis, MaryAnn; De Paepe, Anne; Eyre, David R.; Willaert, Andy; Coucke, Paul J.
  • Erschienen: Proceedings of the National Academy of Sciences, 2018
  • Erschienen in: Proceedings of the National Academy of Sciences
  • Sprache: Englisch
  • DOI: 10.1073/pnas.1722200115
  • ISSN: 0027-8424; 1091-6490
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Significance</jats:title> <jats:p>Type I collagenopathies are a heterogenous group of connective tissue disorders, caused by genetic defects in type I collagen. Inherent to these disorders is a large clinical variability, of which the underlying molecular basis remains undefined. By systematically analyzing skeletal phenotypes in a large set of type I collagen zebrafish mutants, we show that zebrafish models are able to both genocopy and phenocopy different forms of human type I collagenopathies, arguing for a similar pathogenetic basis. This study illustrates the future potential of zebrafish as a tool to further dissect the molecular basis of phenotypic variability in human type I collagenopathies, to improve diagnostic strategies as well as promote the discovery of new targetable pathways for pharmacological intervention of these disorders.</jats:p>
  • Zugangsstatus: Freier Zugang