Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

TitleSequencing of the GBA coactivator, Saposin C, in Parkinson disease.
Publication TypeJournal Article
Year of Publication2018
AuteursBencheikh, BOuled Amar, Leveille, E, Ruskey, JA, Spiegelman, D, Liong, C, Fon, EA, Rouleau, GA, Dauvilliers, Y, Dupré, N, Alcalay, RN, Gan-Or, iv, Z
JournalNeurobiol Aging
Date Published2018 Jul 02

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.

Alternate JournalNeurobiol. Aging
PubMed ID30037697
Grant ListK02 NS080915 / NS / NINDS NIH HHS / United States
UL1 TR000040 / TR / NCATS NIH HHS / United States