Disease-Associated PNPLA6 Mutations Maintain Partial Functions When Analyzed in Drosophila

Mutations in patatin-like phospholipase domain-containing protein 6 (PNPLA6) have been linked with a number of inherited diseases with clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. PNPLA6 is an evolutionary conserved protein whose ortholog in Drosophila is S...

Full description

Bibliographic Details
Main Authors: Elizabeth R. Sunderhaus, Alexander D. Law, Doris Kretzschmar
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Neuroscience
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2019.01207/full