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Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment
Otology & Neurotology 34:995Y1004 Ó 2013, Otology & Neurotology, Inc. Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment *†‡Tobias Moser, *Friederike Predoehl, and §Arnold Starr *InnerEarLab, Department of Otolaryngology, University of Go¨ttingen Medical School; ÞSensory Research Center SFB 889, þBernstein Center for Computational Neuroscience, University of Go¨ttingen, Go¨ttingen, Germany; and §Department of Neurology, University of California, Irvine, California, U.S.A. Objective: To review new insights into the pathophysiology of are similar to those accompanying auditory neuropathy, a group sensorineural hearing impairment. Specifically, we address defects of genetic and acquired disorders of spiral ganglion neurons. of the ribbon synapses between inner hair cells and spiral ganglion Genetic auditory synaptopathies include alterations of glutamate neurons that cause auditory synaptopathy. loading of synaptic vesicles, synaptic Ca2+ influx or synaptic Data Sources and Study Selection: Here, we review original vesicle turnover. Acquired synaptopathies include noise-induced publications on the genetics, animal models, and molecular hearing loss because of excitotoxic synaptic damage and subse- mechanisms of hair cell ribbon synapses and their dysfunction. quent gradual neural degeneration. Alterations of ribbon synapses Conclusion: Hair cell ribbon synapses are highly specialized to likely also contribute to age-related hearing loss. Key Words: enable indefatigable sound encoding with utmost temporal precision. GeneticsVIon -
EMBO Encounters Issue43.Pdf
WINTER 2019/2020 ISSUE 43 Nine group leaders selected Meet the first EMBO Global Investigators PAGE 6 Accelerating scientific publishing EMBO publishing costs Review Commons Making our journals’ platform announced finances public PAGE 3 PAGES 10 – 11 Welcome, Young Investigators! Contract replaces stipend Marking ten years 27 group leaders join the programme EMBO Postdoctoral Fellowships EMBO Molecular Medicine receive an update celebrates anniversary PAGES 4 – 5 PAGE 7 PAGE 13 www.embo.org TABLE OF CONTENTS EMBO NEWS EMBO news Review Commons: accelerating publishing Page 3 EMBO Molecular Medicine turns ten © Marietta Schupp, EMBL Photolab Marietta Schupp, © Page 13 Editorial MBO was founded by scientists for Introducing 27 new Young Investigators scientists. This philosophy remains at Pages 4-5 Ethe heart of our organization until today. EMBO Members are vital in the running of our Meet the first EMBO Global programmes and activities: they screen appli- Accelerating scientific publishing 17 journals on board Investigators cations, interview candidates, decide on fund- Review Commons will manage the transfer of ing, and provide strategic direction. On pages EMBO and ASAPbio announced pre-journal portable review platform the manuscript, reviews, and responses to affili- Page 6 8-9 four members describe why they chose to ate journals. A consortium of seventeen journals New members meet in Heidelberg dedicate their time to an EMBO Committee across six publishers (see box) have joined the Fellowships: from stipends to contracts Pages 14 – 15 and what they took away from the experience. n December 2019, EMBO, in partnership with decide to submit their work to a journal, it will project by committing to use the Review Commons Page 7 When EMBO was created, the focus lay ASAPbio, launched Review Commons, a multi- allow editors to make efficient editorial decisions referee reports for their independent editorial deci- specifically on fostering cross-border inter- Ipublisher partnership which aims to stream- based on existing referee comments. -
Smes in Health Research
SMEs in Health Research Synopses of projects funded through the SME call for “Life sciences, genomics and biotechnology for health” project synopses project Interested in European research? Research*eu is our monthly magazine keeping you in touch with main developments (results, programmes, events, etc.). It is available in English, French, German and Spanish. A free sample copy or free subscription can be obtained from: European Commission Directorate-General for Research Communication Unit B-1049 Brussels Fax (32-2) 29-58220 E-mail: [email protected] Internet: http://ec.europa.eu/research/research-eu European Commisssion Directorate-General for Research Directorate F — Health Unit F1 — Horizontal Aspects and Coordination Contact: Ludovica Serafi ni European Commission Offi ce CDMA 2/179 B-1049 Brussels Tel. (32-2) 29-56759 Fax (32-2) 29-95888 E-mail: ludovica.serafi [email protected] EUROPEAN COMMISSION SMEs in Health Research Synopses of projects funded through the SME call for “Life sciences, genomics and biotechnology for health” (FP6-2005-LIFESCIHEALTH-7) 2008 Directorate-General for Research EUR 23457 EN Health Acknowledgements This catalogue has been produced thanks to the essential input from all project coordinators. Special thanks go to Séverine Romain for her highly professional and dynamic assistance, pivotal for the catalogue completion. I am very grateful to Rachida Ghalouchi, Christel Jaubert, Charles Kelly, Kristina Kyriakopoulou, and to all the officers in Health Directorate responsible for the projects included in this synopses, for their efficient co-operation. Finally, my warmest thanks to Stéphane Hogan, Head of Unit F1, Horizontal aspects and coordination in the Health Directorate, for the commitment and lead provided. -
The Genetic Relationship Between Paroxysmal Movement Disorders and Epilepsy
Review article pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol 2020;28(3):76-87 https://doi.org/10.26815/acn.2020.00073 The Genetic Relationship between Paroxysmal Movement Disorders and Epilepsy Hyunji Ahn, MD, Tae-Sung Ko, MD Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea Received: May 1, 2020 Revised: May 12, 2020 Seizures and movement disorders both involve abnormal movements and are often difficult to Accepted: May 24, 2020 distinguish due to their overlapping phenomenology and possible etiological commonalities. Par- oxysmal movement disorders, which include three paroxysmal dyskinesia syndromes (paroxysmal Corresponding author: kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dys- Tae-Sung Ko, MD kinesia), hemiplegic migraine, and episodic ataxia, are important examples of conditions where Department of Pediatrics, Asan movement disorders and seizures overlap. Recently, many articles describing genes associated Medical Center Children’s Hospital, University of Ulsan College of with paroxysmal movement disorders and epilepsy have been published, providing much infor- Medicine, 88 Olympic-ro 43-gil, mation about their molecular pathology. In this review, we summarize the main genetic disorders Songpa-gu, Seoul 05505, Korea that results in co-occurrence of epilepsy and paroxysmal movement disorders, with a presenta- Tel: +82-2-3010-3390 tion of their genetic characteristics, suspected pathogenic mechanisms, and detailed descriptions Fax: +82-2-473-3725 of paroxysmal movement disorders and seizure types. E-mail: [email protected] Keywords: Dyskinesias; Movement disorders; Seizures; Epilepsy Introduction ies, and paroxysmal dyskinesias [3,4]. Paroxysmal dyskinesias are an important disease paradigm asso- Movement disorders often arise from the basal ganglia nuclei or ciated with overlapping movement disorders and seizures [5]. -
Autism Spectrum Disorder Causes, Mechanisms, and Treatments: Focus on Neuronal Synapses
REVIEW ARTICLE published: 05 August 2013 MOLECULAR NEUROSCIENCE doi: 10.3389/fnmol.2013.00019 Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses Hyejung Won 1,WonMah1,2 and Eunjoon Kim 1,2* 1 Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, South Korea 2 Center for Synaptic Brain Dysfunctions, Institute for Basic Science, Daejeon, South Korea Edited by: Autism spectrum disorder (ASD) is a group of developmental disabilities characterized Nicola Maggio, The Chaim Sheba by impairments in social interaction and communication and restricted and repetitive Medical Center, Israel interests/behaviors. Advances in human genomics have identified a large number of Reviewed by: genetic variations associated with ASD. These associations are being rapidly verified by a Carlo Sala, CNR Institute of Neuroscience, Italy growing number of studies using a variety of approaches, including mouse genetics. These Lior Greenbaum, Hadassah Medical studies have also identified key mechanisms underlying the pathogenesis of ASD, many Center, Israel of which involve synaptic dysfunctions, and have investigated novel, mechanism-based *Correspondence: therapeutic strategies. This review will try to integrate these three key aspects of ASD Eunjoon Kim, Center for Synaptic research: human genetics, animal models, and potential treatments. Continued efforts in Brain Dysfunctions, Institute for Basic Science, and Department of this direction should ultimately reveal core mechanisms that account -
Transformative Research at Ben-Gurion University of the Negev
A DECADE OF TRANSFORMATIVE RESEARCH AT BEN-GURION UNIVERSITY OF THE NEGEV APRIL 2014 "Understanding the secrets of nature will be our greatest endeavor." David Ben-Gurion From the President 3 From the Vice-President and Dean for R&D 4 Leading The Way Ilse Katz Institute for Nanoscale Science and Technology 6 Homeland Security Institute 12 Cyber Security Initiative 16 Jacob Blaustein Institutes for Desert Research 20 Zuckerberg Institute for Water Research 21 French Associates Institute for Agriculture & Biotechnology of Drylands 24 The Swiss Institute for Dryland Environmental and Energy Research 27 Ben-Gurion National Solar Energy Center 29 The National Institute for Biotechnology in the Negev 32 Zlotowski Center for Neuroscience 38 The Edmond J. Safra Center for the Design and Engineering of Functional Biopolymers in the Negev 42 The Bengis Center for Entrepreneurship and Hi-Tech Management 44 Jacques Loeb Centre for the History and Philosophy of the Life Sciences 46 Center for the Study of Conversion and Inter-Religious Encounters 47 The Ben-Gurion Research Institute for the Study of Israel and Zionism 48 HEKSHERIM – the Research Institute for Jewish and Israeli Literature & Culture 49 Research Diversity Humanities Research at BGU 51 Medical Research at BGU 56 The BGU Energy Initiative 60 Robotics Research at BGU 63 The Research & Development Authority 66 Facilitating Innovation BGN Technologies 68 Advanced Technologies Park 70 Ten Years of Leadership in R&D 71 Produced by the Office of the Vice President & Dean for Research and Development in cooperation with the Scientific Publications Section and the Department of Publications and Media Relations. -
Abstract Booklet Download (Pdf 2.1
8 th International Ph. D. Symposium Berlin Brain Days Days Berlin Brain Berlin 2011 / program, curricula vitae, and abstracts curriculaprogram, vitae, Brain Days 2011 /dec. 7 – 9 Program & Abstract Abstracts Curricula The Berlin Brain Days 2011 are jointly organized schedule of the open of the six vitae of of the sym ing lecture by keynote the keynote by six Berlin-based neuroscience Ph. D. programs posium Christian lectures speakers Lüscher LANGUAGES OF Abstracts Abstracts Information EMOTION of all Ph.D. of all pre on the orga conference sented Ph.D. nizing Ph.D. talks posters programs BERLIN SCHOOL OF MIND AND BRAIN www.neuroscience-berlin.de/bbd/ Max Delbrück Center for Molecular Medicine BerlinBuch NATURKUNDE- MUSEUM Langenbeck-Virchow-Haus, Luisenstraße 58/59, 10117 Berlin Imprint Editor Annette Winkelmann Design and Typesetting Sebastian Lehnert, www.deskism.com Original Design Holger Gerhardt Typefaces Adobe Caslon Pro and FF Meta Pro Editorial deadline 18 November 2011 Printing house Flyeralarm, Würzburg Copies 200 Max Delbrück Center for Molecular Medicine Berlin-Buch Conference Center MDC.C ( labeled 83 on the map ), lecture hall “Axon” Robert-Rössle-Straße 10, 13125 Berlin Contents Program and Schedule 4 Opening Lecture Christian Lüscher 7 Session 1 Frank Bradke 10 Session 2 Luiz Pessoa 15 Session 3 Adrienne Fairhall 21 Session 4 Kalanit Grill-Spector 27 Session 5 Hermona Soreq 33 Session 6 Hans Markowitsch 39 Posters 45 P 1 – P12 Medical Neurosciences 47 P13 – P19 Learning and Memory 59 P20 – P25 Mind and Brain 66 P26 – P31 Molecular Neurobiology 72 P32 – P36 Computational Neuroscience 78 P37 – P39 Languages of Emotion 83 P40 – P57 External 86 Graduate Programs 104 Appendix 111 Index of Speakers and Poster Presenters 112 Public Transport 120 Orientation 121 2 Welcome to the Berlin Brain Days 2011 The Berlin Brain Days are an activity of doctoral students across several independent Berlin institu- tions. -
Are You Suprised ?
Alon Friedman Page 1 CURRICULUM VITAE AND LIST OF PUBLICATIONS Updated: February 2, 15 1. Personal Details Name: Friedman, Alon Date and Place of Birth: October 9th, 1964, Yaffo, Israel. Work address: Department of Medical Neuroscience The Department of Physiology & Neurobiology 5850 College Street Faculty of Health Sciences Room 12-H Ben-Gurion University of the Negev, Beer-Sheva, Sir Charles Tupper Building 84105 PO Box 15000 Israel Halifax, NS B3H 4R2 Tel: +902 4944292 +972 54 2365002, Fax: +972 8 6479883 Email: [email protected] [email protected] URL: http://fohs.bgu.ac.il/neurophysio/about.shtml 2. Education B.Sc Medical Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Ben-Gurion 07/1985 M.D. Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel 06/1991 Ph.D. Neuroscience. Advisor: Professor Michael J. Gutnick. Title: "Active and Passive PropertiesBen-Gurion of 09/1991 Neocortical Neurons and their Role in Determining Neuronal Firing Pattern". summa cum laude. University of the Negev, Beer-Sheva, Israel 3. Employment History 2014- Full Professor, Dennis Chair in epilepsy research, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada. 2012- Full Professor, Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben- present Gurion University of the Negev. 2008-12 Tenured, Associate Professor, Department of Physiology, Faculty of Health Sciences, Ben-Gurion University of the Negev. 2009-12 Visiting Professorship, Institute of Neurophysiology, Charite Medical University, Berlin 2004-08 Senior Lecturer, Department of Physiology, Faculty of Health Sciences, Ben-Gurion University of the Negev. 2003 Senior Lecturer, Departments of Neurosurgery and Physiology, Soroka University Medical Alon Friedman Page 2 Center and Faculty of Health Sciences, Ben-Gurion University of the Negev. -
Short Biography (H-Factor: ISI: H-Index = 70, No. of Citations
Hermona Soreq Curriculum Vitae The Alexander Silberman Institute of Life Sciences Slesinger Chair of Molecular Neuroscience The Edmond and Lily Safra Center for Brain Science The Hebrew University of Jerusalem The Edmond J. Safra Campus Givat Ram, Jerusalem, Israel 9190401 Tel: +972-2-658 5109, +972-54-8820629 [email protected]; Website: < http://elsc.huji.ac.il/soreq/home > Short Biography (H-Factor: ISI: H-index = 70, No. of citations without self citations: 16,768 Google Scholar: (includes conference papers) H-index = 88, No. of citations 29,766) Hermona Soreq was trained at The Hebrew University, Tel Aviv University, The Weizmann Institute of Science and the Rockeffeler University. She joined the faculty of The Hebrew University in 1986, where she holds a University Slesinger Chair in Molecular Neuroscience and is a founding member of the Edmond and Lily Safra Center for Brain Science. Soreq studies the mechanisms controlling acetylcholine functioning; she uses molecular biology and genomics to explore cholinergic signaling, with a recent focus on its short and long non-coding RNA regulators, including microRNAs and transfer rNA fragments. Her work spans both basic and biomedical studies on cholinergic signaling in health and disease, particularly on anxiety-related topics and she is the elected President of the International Organization of Cholinergic Mechanisms. Soreq served as the elected Dean of the Faculty of Science (2005-2008), authored hundreds of publications, including 57 published in Science, Nature, PNAS, Neuron and other high-impact journals and has been the recipient of co-recipient of significant funding from US, European and Israeli National and private foundations including an Advanced ERC Award and an Israeli I-Core Center of Excellence on mass trauma. -
Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea
Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea A thesis submitted to the University College London for the degree of Doctor of Philosophy June 2016 by Dr Niccolò Emanuele Mencacci 1 Declaration of Authorship I, Niccolò Emanuele Mencacci, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. 2 Incontenibile andare, di monte in monte, inquieti dietro un mistero che sempre ti seduce, da un’altra valle 3 Abstract In this thesis I used of a range of genetic methodologies and strategies to unravel the genetic bases of Parkinson disease (PD), myoclonus-dystonia (M-D), and chorea. First, I detail the work I performed in PD, including (1) the screening of GBA in a cohort of early-onset PD cases, which led to the identification of the allele E326K (p.Glu365Lys) as the single most frequent, clinically relevant, risk variant for PD; (2) a detailed genetic analysis in a large cohort of PD cases who underwent deep-brain stimulation treatment and a longitudinal comparison of the phenotypic features of carriers of mutations in different genes; (3) the observation that rare GCH1 coding variants, known to be responsible for the childhood-onset disorder DOPA-responsive dystonia, are a novel risk factor for PD. Then, I describe the work I performed to identify novel causes of M-D, including (1) the discovery of the missense p.Arg145His mutation in KCTD17 as a novel cause of autosomal dominant M-D; (2) the identification of tyrosine hydroxylase deficiency as a novel treatable cause of recessive M-D; and (3) the conclusive disproof of the pathogenic role of the p.Arg1389His variant in CACNA1B as a cause of M-D. -
Synaptotoxicity in Alzheimer's Disease
Synaptotoxicity in Alzheimer’s disease : Influence of APP processing on excitatory synapses Rebecca Powell To cite this version: Rebecca Powell. Synaptotoxicity in Alzheimer’s disease : Influence of APP processing on excitatory synapses. Neurons and Cognition [q-bio.NC]. Université Grenoble Alpes, 2019. English. NNT : 2019GREAV051. tel-02953383 HAL Id: tel-02953383 https://tel.archives-ouvertes.fr/tel-02953383 Submitted on 30 Sep 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. THÈSE Pour obtenir le grade de DOCTEUR DE LA COMMUNAUTE UNIVERSITE GRENOBLE ALPES Spécialité : Neurosciences - Neurobiologie Arrêté ministériel : 25 mai 2016 Présentée par Rebecca POWELL Thèse dirigée par Alain BUISSON, Professeur, UGA Préparée au sein du l’institut des Neurosciences de Grenoble INSERM U1216 – Equipe Neuropathologies et Dysfonctions Synaptiques Dans l'École Doctorale de Chimie et Sciences du vivant Synaptotoxicité dans la maladie d’Alzheimer : Influence du processing de l’APP sur les synapses excitatrices Thèse soutenue publiquement le 6 décembre 2019, -
Uva-DARE (Digital Academic Repository)
UvA-DARE (Digital Academic Repository) Phenotypes and mechanisms in myoclonus-dystonia Ritz, K.A. Publication date 2012 Link to publication Citation for published version (APA): Ritz, K. A. (2012). Phenotypes and mechanisms in myoclonus-dystonia. General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl) Download date:28 Sep 2021 Chapter 6Six Summary and general discussion Contents Summary Discussion Myoclonus-dystonia: a cerebellar disorder? Myoclonus-dystonia: a synaptopathy? Myoclonus-dystonia: a myoclonus-plus rather than dystonia-plus syndrome? Conclusion and future research Myoclonus-dystonia pathology Cerebellar dysfunction and myoclonus-dystonia Epsilon-sarcoglycan and synaptic vesicle turnover Identification of novel myoclonus-dystonia associated genes 92 Summary Myoclonus-dystonia (M-D) is a rare hyperkinetic movement disorder. Patients generally present with sudden, brief, shock-like jerks called myoclonus and with dystonic symptoms, which are repetitive twisting movements or abnormal postures.