Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.

导出 OA

翻译打印收藏纠错

作者： Fanny,Roth ^[1] ; Jamila,Dhiab ^[1] ; Alexis,Boulinguiez ^[1] ; Hadidja-Rose,Mouigni ^[1] ; Saskia,Lassche ^[2] ; Elisa,Negroni ^[1] ; Laura,Muraine ^[1] ; Alix,Marhic ^[1] ; Alison,Oliver ^[1] ; Jeanne,Lainé ^[1] ; Andrée,Rouche ^[1] ; Erin K,O'Ferrall ^[3] ; Baziel,van Engelen ^[4] ; Coen,Ottenheijm ^[5] ; Hagar,Greif ^[2] ; Sergiu,Blumen ^[6] ; Jean,Lacau St Guily ^[7] ; Sophie,Perie ^[1] ; Gillian,Butler-Browne ^[8] ; Vincent,Mouly ^[9] ; Capucine,Trollet ^[1]

作者单位： Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France. ^[1] Department of Physiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. ^[2] Department of Neurology and Neurosurgery, McGill University, Montréal, Canada. ^[3] Department of Pathology, Montreal Neurological Institute and Hospital, McGill University, Montréal, Canada. ^[4] Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. ^[5] BioBlast-Pharma Ltd., Tel-Aviv, Israel. ^[6] Department of Neurology, Hadera and Rappaport Faculty of Medicine, Hillel Yaffe Medical Center, The Technion, 1 Efron Street, 31096, Haifa, Israel. ^[7] Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine and Sorbonne, Université, Tenon Hospital, APHP, Paris, France. ^[8] Department of Otolaryngology-Head and Neck Surgery, Rothschild Foundation Hospital and Sorbonne University, Paris, France. ^[9] Department of Otolaryngology Head and Neck Surgery, Com Maillot-Hartmann Clinic, Neuilly-sur-Seine, France. ^[10] Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France. capucine.trollet@upmc.fr. ^[11]

关键词 Human biopsies Inclusions Loss of function Nuclear aggregates OPMD PABPN1 Xenograft