caa a22 4500 60617768X CHVBK 20210128100753.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s00018-015-1878-2 doi (NATIONALLICENCE)springer-10.1007/s00018-015-1878-2 The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction [Elektronische Daten] [S. Bachiller, T. Rybkina, E. Porras-García, E. Pérez-Villegas, L. Tabares, J. Armengol, A. Carrión, R. Ruiz] The ubiquitin-proteasome system (UPS) plays a fundamental role in protein degradation in neurons, and there is strong evidence that it fulfills a key role in synaptic transmission. The aim of the present work was to study the implication of one component of the UPS, the HERC1 E3 Ubiquitin Ligase, in motor function and neuromuscular transmission. The tambaleante (tbl) mutant mouse carries a spontaneous mutation in HERC1 E3 Ubiquitin Ligase, provoking an ataxic phenotype that develops in the second month of life. Our results show that motor performance in mutant mice is altered at postnatal day 30, before the cerebellar neurodegeneration takes place. This defect is associated with by: (a) a reduction of the motor end-plate area, (b) less efficient neuromuscular activity in vivo, and (c) an impaired evoked neurotransmitter release. Together, these data suggest that the HERC1 E3 Ubiquitin Ligase is fundamental for normal muscle function and that it is essential for neurotransmitter release at the mouse neuromuscular junction. Springer Basel, 2015 Vesicle nationallicence Proteasome nationallicence Electromyography (EMG) nationallicence Ready releasable pool (RRP) nationallicence Synapse nationallicence Intracellular recording nationallicence Bachiller S. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Rybkina T. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Porras-García E. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Pérez-Villegas E. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Tabares L. Department of Medical Physiology and Biophysics, University of Seville, Seville, Spain aut Armengol J. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Carrión A. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Ruiz R. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut Cellular and Molecular Life Sciences Springer Basel 72/15(2015-08-01), 2961-2971 1420-682X 72:15<2961 2015 72 18 https://doi.org/10.1007/s00018-015-1878-2 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00018-015-1878-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bachiller S. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Rybkina T. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Porras-García E. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Pérez-Villegas E. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Tabares L. Department of Medical Physiology and Biophysics, University of Seville, Seville, Spain aut NATIONALLICENCE 700 1- Armengol J. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Carrión A. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 700 1- Ruiz R. Department of Physiology, Anatomy and Cellular Biology, University of Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain aut NATIONALLICENCE 773 0- Cellular and Molecular Life Sciences Springer Basel 72/15(2015-08-01), 2961-2971 1420-682X 72:15<2961 2015 72 18