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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...
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| Publicado no: | Front Neurosci |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6852622/ https://ncbi.nlm.nih.gov/pubmed/31780887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2019.01207 |
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