Article
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
The Journal of clinical investigation - 1 Jul 2014
Knowles Byron C, Roland Joseph T, Krishnan Moorthy, Tyska Matthew J, Lapierre Lynne A, Dickman Paul S, Goldenring James R, Shub Mitchell D
Abstract excerpt
Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (MYO5B). We have examined the association of mutations in MYO5B and disruption of microvillar assembly and polarity in enterocytes. Stable MYO5B knockdown (MYO5B-KD) in CaCo2-BBE cells elicited loss of microvilli, alterations in junctional claudins, and disruption of...
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