A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.

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作者： Celia,Cordero-Sanchez ^[1] ; Beatrice,Riva ^[1] ; Simone,Reano ^[2] ; Nausicaa,Clemente ^[2] ; Ivan,Zaggia ^[2] ; Federico A,Ruffinatti ^[1] ; Alberto,Potenzieri ^[1] ; Tracey,Pirali ^[1] ; Salvatore,Raffa ^[3] ; Sabina,Sangaletti ^[4] ; Mario P,Colombo ^[4] ; Alessandra,Bertoni ^[2] ; Matteo,Garibaldi ^[5] ; Nicoletta,Filigheddu ^[6] ; Armando A,Genazzani ^[7]

作者单位： Department of Pharmaceutical Sciences, University of Piemonte Orientale, Via Bovio 6, Novara 28100, Italy. ^[1] Department of Translational Medicine, Università del Piemonte Orientale, Via Solaroli 17, Novara 28100, Italy. ^[2] Laboratory of Ultrastructural Pathology, Department of Clinical and Molecular Medicine, SAPIENZA University of Rome, Sant'Andrea Hospital, Rome 00189, Italy. ^[3] Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan 20133, Italy. ^[4] Unit of Neuromuscular Disorders, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, Rome 00189, Italy. ^[5] Department of Translational Medicine, Università del Piemonte Orientale, Via Solaroli 17, Novara 28100, Italy armando.genazzani@uniupo.it nicoletta.filigheddu@med.uniupo.it. ^[6] Department of Pharmaceutical Sciences, University of Piemonte Orientale, Via Bovio 6, Novara 28100, Italy armando.genazzani@uniupo.it nicoletta.filigheddu@med.uniupo.it. ^[7]

关键词 Calcium signaling Mouse model Rare disease STIM1 Store-operated calcium entry