| Literature DB >> 18724368 |
Thomas Müller1, Michael W Hess, Natalia Schiefermeier, Kristian Pfaller, Hannes L Ebner, Peter Heinz-Erian, Hannes Ponstingl, Joachim Partsch, Barbara Röllinghoff, Henrik Köhler, Thomas Berger, Henning Lenhartz, Barbara Schlenck, Roderick J Houwen, Christopher J Taylor, Heinz Zoller, Silvia Lechner, Olivier Goulet, Gerd Utermann, Frank M Ruemmele, Lukas A Huber, Andreas R Janecke.
Abstract
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.Entities:
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Year: 2008 PMID： 18724368 DOI： 10.1038/ng.225
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330