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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| 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 |