Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

Hum Mol Genet. 2017 Jan 15;26(2):466. doi: 10.1093/hmg/ddw424.

Stylianos Michalakis¹, Lior Shaltiel¹, Vithiyanjali Sothilingam², Susanne Koch¹, Verena Schludi¹, Stefanie Krause¹, Christina Zeitz^{3

4

5}, Isabelle Audo^{3

4

5

6

7}, Marie-Elise Lancelot^{3

4

5}, Christian Hamel⁸, Isabelle Meunier⁸, Markus N Preising⁹, Christoph Friedburg⁹, Birgit Lorenz⁹, Nawal Zabouri¹⁰, Silke Haverkamp¹⁰, Marina Garcia Garrido², Naoyuki Tanimoto², Mathias W Seeliger², Martin Biel¹, Christian A Wahl-Schott¹

¹ Center for Integrated Protein Science Munich (CIPSM) and Department of PharmacyCenter for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
² Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.
³ INSERM, UMR_S968, Paris F-75012, France.
⁴ CNRS, UMR_7210, Paris F-75012, France.
⁵ UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France.
⁶ Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERMDHOS CIC 503, Paris F-75012, France.
⁷ UCL-Institute of Ophthalmology, London EC1V 9EL, UK.
⁸ CHRU, Genetics of Sensory Diseases, Montpellier 34091, France.
⁹ Department of Ophthalmology, Justus-Liebig-University Giessen, Universitätsklinikum Giessen and Marburg GmbH, Giessen Campus, 35392 Giessen, Germany.
¹⁰ Neuroanatomy, Max-Planck-Institute for Brain Research, 60438 Frankfurt/M, Germany.

No abstract available

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