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Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Traffic and Cell Polarity
Author(s) -
Thoeni Cornelia E.,
Vogel Georg F.,
Tancevski Ivan,
Geley Stephan,
Lechner Silvia,
Pfaller Kristian,
Hess Michael W.,
Müller Thomas,
Janecke Andreas R.,
Avitzur Yaron,
Muise Aleixo,
Cutz Ernest,
Huber Lukas A.
Publication year - 2014
Publication title -
traffic
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.677
H-Index - 130
eISSN - 1600-0854
pISSN - 1398-9219
DOI - 10.1111/tra.12131
Subject(s) - microvillus , biology , enterocyte , myosin , microbiology and biotechnology , cell polarity , rab , epithelial polarity , intracellular , apical membrane , endosome , gtpase , cell , epithelium , genetics , biochemistry , small intestine , membrane
Missense and nonsense mutations in the MYO5B gene cause microvillus inclusion disease ( MVID ), a congenital enteropathy characterized by loss of apical microvilli and cytoplasmic microvillus inclusions. A non‐functional myosin Vb motor in mature enterocytes results in disorganized actin filaments, interruption of intracellular vesicle trafficking manifesting by redistributed Rab GTPases (Rab11, Rab9 and Rab8), mislocalized cell organelle markers ( EEA1 and LAMP2 ) and transporter proteins ( CD36 , TfR and Na/K ATPase ). This results in impaired intestinal barrier formation and severe loss of epithelial polarity.