Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major component of the mitochondrial m-AAA protease. However, little is known of the underlying pathogenetic mechanisms or how to treat patients wi...

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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli, Roberta Parolisi, Diana Iulia Gondor Morosini, Valentina Nicolò, Francesca Maltecca, Luisa Muratori, Giulia Ronchi, Stefano Geuna, Francesca Arnaboldi, Elena Donetti, Elisa Giorgio, Simona Cavalieri, Eleonora Di Gregorio, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Giorgio Casari, Fiorella Altruda, Emilia Turco, Giuseppe Gasparre, Brendan J. Battersby, Anna Maria Porcelli, Enza Ferrero, Alfredo Brusco, Filippo Tempia
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Elsevier 2019-04-01
سلاسل:	Neurobiology of Disease
الموضوعات:	SCA28 AFG3L2 Mouse knock-in Mitochondrial dynamics Proteotoxicity
الوصول للمادة أونلاين:	http://www.sciencedirect.com/science/article/pii/S0969996118303206
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!