Article
A role of mitochondrial complex II defects in genetic models of Huntington's disease expressing N-terminal fragments of mutant huntingtin.
Human molecular genetics - 1 Oct 2013
Damiano Maria, Diguet Elsa, Malgorn Carole, D'Aurelio Marilena, Galvan Laurie, Petit Fanny, Benhaim Lucile, Guillermier Martine, Houitte Diane, Dufour Noelle, Hantraye Philippe, Canals Josep M, Alberch Jordi, Delzescaux Thierry, Déglon Nicole, Beal M Flint, Brouillet Emmanuel
Abstract excerpt
Huntington's disease (HD) is a neurodegenerative disorder caused by an abnormal expansion of a CAG repeat encoding a polyglutamine tract in the huntingtin (Htt) protein. The mutation leads to neuronal death through mechanisms which are still unknown. One hypothesis is that mitochondrial defects may play a key role. In support of this, the activity of mitochondrial complex II (C-II) is preferentially reduced in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.