Stoll Levy Francfort syndrome

Known as: FACIOAURICULORADIAL DYSPLASIA, PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA 
 
National Institutes of Health

Papers overview

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2017
2017
Kušová D., Těšitel J.: Action research in landscape ecology (Šumava Biosphere Reserve, Czech Republic case study). Ekológia… (More)
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2016
2016
....................................................................................................................................... 3 RÉSUMÉ ............................................................................................................................................ 5 ABBREVIATIONS ............................................................................................................................ 7 CHAPTER I : GENERAL INTRODUCTION ................................................................................ 8 I.1) THE PATHOLOGICAL HALLMARKS OF ALZHEIMER’S DISEASE ...................................................... 9 I.2) CURRENT TREATMENTS AND DETECTION...................................................................................1 I.3) THE AMYLOID CASCADE HYPOTHESIS AND AD GENETICS ......................................................... 1 I.4) APP TRAFFICKING AND A GENERATION ................................................................................. I.5) APP CELLULAR FUNCTION ........................................................................................................ 18 I.6) ASSEMBLY AND STRUCTURE OF THE -SECRETASE COMPLEX .................................................... 20 I.7) THERAPEUTIC STRATEGIES IN AD .............................................................................................2 I.8) AIM OF THE THESIS WORK ......................................................................................................... 2 CHAPTER II : MODULATION AND PHYSIOLOGICAL FUNCTIONS OF -SECRETASE ............................................................................................................................................................ 2 II.1) INTRODUCTION ........................................................................................................................ 2 II.1.a) Endogenous modulators of A production .....................................................................2 II.1.b) Effects of post-translational modifications on the enzymatic activity of -secretase .....2 II.1.c) The role of -secretase in the cytoskeleton dynamics ...................................................... 28 II.2) RESULTS .................................................................................................................................. 29 II.2.a) The Adipocyte Differentiation Protein APMAP is an Endogenous Suppressor of A Production in the Brain .............................................................................................................. 29 II.2.b) Identification of New Presenilin-1 Phosphosites: Implication for -Secretase Activity and A Production ..................................................................................................................... 29 II.2.c) Inactivation of Brain Cofilin-1 by Age, Alzheimer's Disease and -Secretase ................ 30 II.3) MANUSCRIPTS ......................................................................................................................... 3 II.3.a) The Adipocyte Differentiation Protein APMAP is an Endogenous Suppressor of A Production in the Brain .............................................................................................................. 3 II.3.b) Identification of New Presenilin-1 Phosphosites: Implication for -Secretase Activity and A Production ..................................................................................................................... 60 II.3.c) Inactivation of Brain Cofilin-1 by Age, Alzheimer's Disease and -Secretase ................ 86 CHAPTER III : ENGINEERING NEW TOOLS FOR THE OBSERVATION AND REPAIR OF BRAIN STRUCTURE DAMAGES ....................................................................................... 116 III.1) INTRODUCTION .................................................................................................................... 117 III.1.a) Monitoring brain structure alterations in AD ............................................................. 117 III.1.b) Rescue brain alteration in neurodegenerative processes ............................................ 117 III.2) RESULTS .............................................................................................................................. 118 III.2.a) Accurate Resistivity Mouse Brain Mapping Using Microelectrode Arrays ................. 118 III.2.b) Detection of Alzheimer’s Disease Amyloid-beta Plaque Deposition by Deep Brain Impedance Profiling ................................................................................................................. 118 III.2.c) A Compressible Scaffold for Minimally Invasive Delivery of Large Intact Neuronal Networks .................................................................................................................................. 119 III.3) MANUSCRIPTS ...................................................................................................................... 119 III.3.a) Accurate Resistivity Mouse Brain Mapping Using Microelectrode Arrays ................. 120 III.3.b) Detection of Alzheimer’s Disease Amyloid-beta Plaque Deposition by Deep Brain Impedance Profiling ................................................................................................................. 131 III.3.c) A Compressible Scaffold for Minimally Invasive Delivery of Large Intact Neuronal Networks .................................................................................................................................. 140 CHAPTER IV : GENERAL DISCUSSION AND PERSPECTIVES ........................................ 177 IV.1) DISCUSSION.......................................................................................................................... 178 IV.2) PERSPECTIVES ...................................................................................................................... 182 BIBLIOGRAPHY .......................................................................................................................... 185 CURRICULUM VITAE ................................................................................................................ 212 Acknowledgments I would like to express my gratitude to my advisor Professor Patrick C. Fraering for accepting me in his lab, and sharing with me his rigor and his passion for science. Thanks for all the constructive remarks and criticisms which taught me to stay objective about my work, and for letting me work on a high diversity of exciting projects. Also, I want to acknowledge all CMSN lab member for their help all the time of my PhD thesis. I especially thank Dr. Claude Schweizer for sharing with me his knowledge and patience, and trying to convince me not do a PhD. I thank the former lab members Dr. Jemila Houacine, Dr. Isabelle Magold, Dr. Nathalie Bot, Dr. Tristan Bolmont, Prof. Fang Wu and Dr. Jean-René Alattia for their support and interesting discussions. I have to acknowledge our former technicians Lorène Aeschbach and Justine Pascual for their outstanding technical support. Many thanks to our PhD students Dr. Mitko Dimitrov for guiding me along my PhD and for challenging my data, Magda Palczynska for the nice moments and parties. Special thanks to our master students Alexandre Matz for helping me with my work and for the interesting discussion. A warm thanks to current lab members for the great work atmosphere, Dr. Erika Borcel for her kindness and help, Pablo Serrano de Toro for your perseverance and the funny “whaaaat?!?” you say all the time, Hermeto Gerber for breaking the Swiss clichés about strictness and organization, Virginie Braman for her cheerfulness and her sweet French accent, Guillermo Garcia Osuna for his patience during lab meetings, and Chloé Hot for her support help and sincerity. I shall not forget to thank my lab neighbors Anass Chiki, Ossama Khalaf and Bruno Fauvet for teaching me Arabic, and for their cheerful company at any time day and night. I’m very grateful to all our collaborators from EPFL Dr. Amélie Béduer, Dr. Pierre Joris, Thibault Francfort and Ren Yufei for the interesting discussions and for making me discover new scientific approaches. I appreciated the help of the SV proteomics facility Dr. Marc Moniatte, his patience and inputs for mass spectrometry experiments. I have to acknowledge the people from the “centre de phénogénomique”, especially Emilie Feignoux and Anouk Berger for their huge support with mice care, as well as Dr. Isabelle Desbaillets for keeping calm and helping me when I had problems with managing animal licenses. Many thanks to my mentor Daniel Schorderet for giving me the opportunity to work with his team, and discover a different working atmosphere. I address my roommates Stefan, Dr. Florian, Fanny, Pauline, Kevin and Svenja my acknowledgment for their pleasant daily company, and interesting talks we had around a beer. Thank you to my 
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Review
2015
Review
2015
Grain legume production in Europe has decreased in recent years, while legume demand has rapidly increased due to growth of meat… (More)
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2013
2013
Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures… (More)
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2010
2010
The localization of large strains in very thin bands, smeared view of fractures, is associated with the minimization of a two… (More)
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2006
2006
This paper presents a systematic study of the performance of the relativistic effective core potentials (RECPs) proposed by Dolg… (More)
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1972
1972
Ernst Karl Abbe naît le 23 janvier 1840 à Eisenach (qui est aussi la ville natale de Jean-Sébastien Bach) dans le grand-duché de… (More)
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1942
1942
1. Die in einer fr\:uheren Arbeit1 ermittelten Zeit/Menge-Beziehungen bei der Digitalisauswertung am Meerschweinchen wurden auf… (More)
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