Pinto, Francesco

University of Groningen

   University of GroningenUnraveling VPS13A pathways: from Drosophila to humanPinto, FrancescoIMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite fromit. Please check the document version below.Document VersionPublisher's PDF, also known as Version of recordPublication date:2018Link to publication in University of Groningen/UMCG research databaseCitation for published version (APA):Pinto, F. (2018). Unraveling VPS13A pathways: from Drosophila to human. [Groningen]: University ofGroningen.CopyrightOther than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of theauthor(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons).Take-down policyIf you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediatelyand investigate your claim.Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons thenumber of authors shown on this cover page is limited to 10 maximum.Download date: 13-11-2019  Unraveling VPS13A pathways: from Drosophila to human             Francesco Pinto                                     The research described in this thesis was conducted at the Department of Cell Biology, University Medical Center Groningen, The Netherlands. Printing of this thesis was financially supported by University of Groningen, University Medical Center Groningen and Graduate School of Medical Sciences, Groningen.   ISBN: 978-94-034-1152-1 ISBN: 978-94-034-1151-4 (Ebook)  Copyright©2018 F. Pinto. All rights reserved. No part of this book may be reproduced or transmitted in any form or by any means without prior written permission of the author.  Cover designed by Francesco Pinto.  Printed by Ridderprint BV, Ridderkerk, The Netherlands.          Unraveling VPS13A pathways: from Drosophila to human     PhD thesis    to obtain the degree of PhD at the University of Groningen on the authority of the Rector Magnificus Prof. E. Sterken and in accordance with the decision by the College of Deans.  This thesis will be defended in public on  Wednesday 14 November 2018 at 11.00 hours   by   Francesco Pinto born on 26 June 1987 in Milan, Italy  Supervisor Prof. O.C.M. Sibon   Co-supervisor Prof. S.C.D. van Ijzendoorn   Assessment Committee Prof. G. de Haan  Prof. P. Verstreken  Prof. J.A. Kuivenhoven                                                      In memory of my dear friend Hette Faber.  “You may be gone, but you will never be forgotten”                                                     Table of contents  Chapter 1 Deciphering the role of VPS13A in Chorea acanthocytosis  9 Introduction 10 Aim of the thesis  18  Chapter 2 Drosophila Vps13 is required for protein homeostasis in the brain  25 Chapter 3 Mass spectrometry identified Galectin as a Vps13 interacting protein  in Drosophila  61 Chapter 4 Human VPS13A is associated with multiple organelles and required  for lipid droplet homeostasis  89 Chapter 5 Solving the VPS13A puzzle: conclusion and future perspectives  133 General discussions  134 Future perspectives  141 Samenvatting  147 Acknowledgements  151              

Unraveling VPS13A pathways: from Drosophila to human

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Unraveling VPS13A pathways: from Drosophila to human

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