| Title | Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. |
| Publication Type | Journal Article |
| Year of Publication | 2018 |
| Auteurs | Bencheikh, BOuled Amar, Leveille, E, Ruskey, JA, Spiegelman, D, Liong, C, Fon, EA, Rouleau, GA, Dauvilliers, Y, Dupré, N, Alcalay, RN, Gan-Or, iv, Z |
| Journal | Neurobiol Aging |
| Date Published | 2018 Jul 02 |
| ISSN | 1558-1497 |
| Abstract | Saposin C (SapC), encoded by PSAP, is required for the activity of glucocerebrosidase, encoded by GBA. Although GBA mutations have been studied thoroughly in Parkinson disease (PD), genetic studies on SapC are still lacking. PSAP was sequenced in 1123 PD patients and 1153 controls, and data from additional 1167 patients and 1685 controls were examined. A total of 6 patients had SapC mutations in the 2 combined cohorts, but no statistically significant association after correction for multiple comparisons was found. Larger studies are necessary to examine the role of very rare SapC variants in PD. |
| DOI | 10.1016/j.neurobiolaging.2018.06.034 |
| Alternate Journal | Neurobiol. Aging |
| PubMed ID | 30037697 |
| Grant List | K02 NS080915 / NS / NINDS NIH HHS / United States UL1 TR000040 / TR / NCATS NIH HHS / United States |