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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2019-04-01
Series:Neurobiology of Disease
Subjects:
SCA28
AFG3L2
Mouse knock-in
Mitochondrial dynamics
Proteotoxicity
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118303206

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