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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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Vydáno v:Front Neurosci
Hlavní autoři: Sunderhaus, Elizabeth R., Law, Alexander D., Kretzschmar, Doris
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
On-line přístup: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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