Article
GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models.
Aging - 21 Nov 2019
Morén Constanza, Juárez-Flores Diana Luz, Chau Kai-Yin, Gegg Matthew, Garrabou Glòria, González-Casacuberta Ingrid, Guitart-Mampel Mariona, Tolosa Eduardo, Martí María José, Cardellach Francesc, Schapira Anthony Henry Vernon
Abstract excerpt
Glucocerebrosidase (GBA) mutations are the most important genetic risk factor for the development of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase). Loss-of-GCase activity in cellular models has implicated lysosomal and mitochondrial dysfunction in PD disease pathogenesis, although the exact mechanisms remain unclear. We hypothesize that GBA mutations impair mitochondria...
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