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University of Groningen Polarized protein trafficking and disease Overeem, Arend Wouter

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University of Groningen

Polarized protein trafficking and disease Overeem, Arend Wouter

DOI:

10.33612/diss.112660241

IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below.

Document Version

Publisher's PDF, also known as Version of record

Publication date: 2020

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

Overeem, A. W. (2020). Polarized protein trafficking and disease: Towards understanding the traffic jams in microvillus inclusion- and Wilson disease. Rijksuniversiteit Groningen.

https://doi.org/10.33612/diss.112660241

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Polarized protein trafficking and disease:

Towards understanding the traffic jams in

Micro-villus Inclusion- and Wilson Disease.

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2

Polarized protein trafficking and disease: Towards understanding the traffic jams in Microvillus Inclusion- and Wilson Disease.

This research was financially supported by:

Graduate School of Medical Sciences, University of Groningen Nederlandse Vereniging voor Gastroenterology

De Stichting De Cock -Hadders TKO Strong Foundation

The Daniel Courtney Trust

The experiments described in this thesis were conducted at:

Department of Biomedical Sciences of Cells & Systems, section Molec-ular Cell Biology, Groningen University Institute for Drug Exploration (GUIDE). University of Groningen, The Netherlands.

ISBN: 978-94-034-2191-9

Thesis design and layout: Arend Overeem

Printing: Ridderprint BV, Ridderkerk, The Netherlands

Copyright 2019 A.W.Overeem. All rights reserved. No parts of this thesis may be reproduced or transmitted in any form or by any means without prior permission of the author

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Polarized protein trafficking

and disease: Towards

un-derstanding the traffic jams

in Microvillus Inclusion- and

Wilson Disease.

Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. C. Wijmenga en volgens besluit van het College voor Promoties.

De openbare verdediging zal plaatsvinden op maandag 20 januari 2020 om 16.15 uur

door

Arend Wouter Overeem

geboren op 8 augustus 1990 te Bennekom

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Promotores

Prof. dr. S.C.D. van IJzendoorn Prof. dr. D. Hoekstra

Beoordelingscommissie

Prof. dr. H.J. Verkade

Prof. dr. R.P.J. Oude Elferink Prof. dr. R.H.J. Houwen

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Paranimfen

Freek Sorgdrager

André Overeem

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Contents

Chapter 1.

Introduction and scope of the thesis

Chapter 2.

Mechanisms of apical–basal axis orientation and epithelial lumen positioning

Chapter 3.

The role of enterocyte defects in the pathogenesis of congeni-tal diarrheal disorders

Chapter 4.

Myo5b knockout mice as a model of microvillus inclusion disease

Chapter 5.

MYO5B, STX3, and STXBP2 mutations reveal a common dis-ease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

Chapter 6.

A molecular mechanism underlying genotype-specific intra-hepatic cholestasis resulting from MYO5B mutations

Chapter 7.

Pluripotent stem cell-derived bile canaliculi-forming hepato-cytes to study genetic liver diseases involving hepatocyte po-larity

Chapter 8.

Summary and Perspectives

Nederlandse Samenvatting

9 19 45 79 97 125 159 195 217

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