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

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
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https://hal.umontpellier.fr/hal-02316569
Contributeur : Mélanie Karli <>
Soumis le : mardi 15 octobre 2019 - 14:02:16
Dernière modification le : jeudi 17 octobre 2019 - 17:02:17

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Bouchra Ouled Amar Bencheikh, Etienne Leveille, Jennifer Ruskey, Dan Spiegelman, Christopher Liong, et al.. Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. Neurobiology of Aging, Elsevier, 2018, 72, pp.187.e1-187.e3. ⟨10.1016/j.neurobiolaging.2018.06.034⟩. ⟨hal-02316569⟩

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