Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infan...

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Bibliographic Details
Main Authors: Denise Aldrian, Georg F. Vogel, Teresa K. Frey, Hasret Ayyıldız Civan, Aysel Ünlüsoy Aksu, Yaron Avitzur, Ester Boluda Ramos, Murat Çakır, Arzu Meltem Demir, Caroline Deppisch, Hans-Christoph Duba, Gesche Düker, Patrick Gerner, Jozef Hertecant, Jarmila Hornová, Simone Kathemann, Jutta Koeglmeier, Arsinoi Koutroumpa, Roland Lanzersdorfer, Raffi Lev-Tzion, Rosa Lima, Sahar Mansour, Manfred Meissl, Jan Melek, Mohamad Miqdady, Jorge Hernan Montoya, Carsten Posovszky, Yelena Rachman, Tania Siahanidou, Merit Tabbers, Holm H. Uhlig, Sevim Ünal, Stefan Wirth, Frank M. Ruemmele, Michael W. Hess, Lukas A. Huber, Thomas Müller, Ekkehard Sturm, Andreas R. Janecke
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Journal of Clinical Medicine
Subjects:
congenital diarrheal diseases
enteropathy
microvillus inclusion disease
MYO5B
myosin Vb
progressive familial intrahepatic cholestasis
Online Access:https://www.mdpi.com/2077-0383/10/3/481

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https://www.mdpi.com/2077-0383/10/3/481

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