Molecular dissection of the dysferlin protein complex in skeletal
muscle
Huang, Y.
Citation
Huang, Y. (2006, September 26). Molecular dissection of the dysferlin protein complex in
skeletal muscle. Gildeprint Drukkerijen, Enschede. Retrieved from
https://hdl.handle.net/1887/4573
Version: Corrected Publisher’s Version
License: Licence agreement concerning inclusion of doctoral thesis in theInstitutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/4573
Molecular dissection of the dysferlin
protein com plex in skeletal m uscle
Front cover: Picture of Netherlands map (adapted from www.ericandjoan.com) Back cover: Picture of China map (adapted from www.travel-in-china.com) Printed by: Febodruk BV, Enschede, the Netherlands
ISBN-10: 90-9020952-2 ISBN-13: 978-90-9020952-4 Yanchao Huang
M olecular dissection of the dysferlin protein complex in skeletal muscle
Thesis, Leiden University M edical Center-with references, summary in English and Dutch.
© 2006 Yanchao Huang
Molecular dissection of the dysferlin protein
complex in skeletal muscle
Proefschrift
ter verkrijging van
de graad van Doctor aan de Universiteit Leiden, op gezag van de Rector Magnificus Dr. D. D. Breimer,
hoogleraar in de faculteit der W iskunde en Natuurwetenschappen en die der Geneeskunde, volgens besluit van het College voor Promoties te verdedigen op dinsdag 26 september 2006
te klokke 13.45 uur
door
Promotiecommissie Promotores: Co-promotor: Referent: Overige leden:
Prof. Dr. Ir. S. M. van der Maarel Prof. Dr. R. R. Frants
Dr. J. T. den Dunnen Prof. Dr. H. J. Tanke
Prof. Dr. M. de Visser (AMC, Amsterdam) Prof. Dr. K. Bushby (Institute of Human Genetics, Newcastle, UK)
The studies presented in this thesis were performed at the Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. The studies were supported by Senter Novem (IGE01019A), an agency of the Dutch Ministry of Economic Affairs.
The printing of this thesis was financially supported by: - J. E. Jurriaanse Stiching
Contents
Chapter 1 General introduction 9
Chapter 2 Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display
29
Chapter 3 AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
39
Chapter 4 Calpain 3 proteolysis regulates AHNAK turnover and prevents its interaction with dysferlin and myoferlin
63
Chapter 5 General discussion and future perspectives 85
Summary 95
Samenvatting 97
Acknowledgements 99
Curriculum vitae 101
