| First Author | Sunderhaus Elizabeth R | Year | 2019 |
| Journal | Front Neurosci | Volume | 13 |
| Pages | 1207 | PubMed ID | 31780887 |
| Abstract Text | 1and restored lipid levels, confirming that the human protein can replace fly SWS. In contrast, none of the mutant proteins restored lipid levels, although they suppressed the behavioral and degenerative phenotypes, at least in early stages. These results show that these mutant forms of PNPLA6 retain some biological function, indicating that disruption of lipid homeostasis is only part of the pathogenic mechanism. Furthermore, our finding that mutations in the cNMP binding sites prevented the restoration of normal lipid levels supports previous evidence that cNMP regulates the phospholipase activity of PNPLA6. | Doi | 10.3389/fnins.2019.01207 |
