Journal
GASTROENTEROLOGY
Volume 147, Issue 1, Pages 65-U142Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.gastro.2014.04.002
Keywords
Variant Microvillus Inclusion Disease; Syntaxin 3; Epithelial Polarity
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Funding
- Oesterreichische Nationalbank Jubilaumsfonds [14496]
- Tiroler Wissenschaftsfonds [UNI-0404/1286]
- Austrian Science Funds FWF [SFB021]
- MCBO (PhD Program in Molecular Cell Biology and Oncology at the Innsbruck Medical University) fellowship
- Wilhelmina Children's Hospital Fund
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Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. Whole-exome sequencing of DNA from patients with variant MVID showed homozygous truncating mutations in syntaxin 3 (STX3). STX3 is an apical receptor involved in membrane fusion of apical vesicles in enterocytes. Patient-derived organoid cultures and overexpression of truncated STX3 in Caco-2 cells recapitulated most characteristics of variant MVID. We conclude that loss of STX3 function causes variant MVID.
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