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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca.
  • Tulli S; Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Del Bondio A; Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Baderna V; Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Mazza D; Experimental Imaging Center, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Codazzi F; Università Vita-Salute San Raffaele, Milan, Italy.
  • Pierson TM; Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Ambrosi A; Departments of Pediatrics and Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  • Nolte D; Università Vita-Salute San Raffaele, Milan, Italy.
  • Goizet C; Department of Medicine, Institute for Human Genetics, Justus-Liebig-University Giessen, Giessen, Germany.
  • Toro C; Centre de Reference Neurogenetique, Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
  • Baets J; Laboratoire MRGM, INSERM U1211, Bordeaux, France.
  • Deconinck T; Undiagnosed Disease Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • DeJonghe P; Neurogenetics Group and Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
  • Mandich P; Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium.
  • Casari G; Neurogenetics Group and Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
  • Maltecca F; Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium.
J Med Genet ; 56(8): 499-511, 2019 08.
Article en En | MEDLINE | ID: mdl-30910913
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Estrés Fisiológico / Variación Genética / Metaloendopeptidasas / Proteasas ATP-Dependientes / Haploinsuficiencia / Dominios Proteicos / ATPasas Asociadas con Actividades Celulares Diversas Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Estrés Fisiológico / Variación Genética / Metaloendopeptidasas / Proteasas ATP-Dependientes / Haploinsuficiencia / Dominios Proteicos / ATPasas Asociadas con Actividades Celulares Diversas Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article