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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sunderhaus, Elizabeth R., Law, Alexander D., Kretzschmar, Doris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852622/
https://www.ncbi.nlm.nih.gov/pubmed/31780887
http://dx.doi.org/10.3389/fnins.2019.01207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852622/
https://www.ncbi.nlm.nih.gov/pubmed/31780887
http://dx.doi.org/10.3389/fnins.2019.01207

Ejemplares similares