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Article Dans Une Revue Neurobiology of Aging Année : 2018

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

Résumé

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

Dates et versions

hal-02316569 , version 1 (15-10-2019)

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Citer

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, 2018, 72, pp.187.e1-187.e3. ⟨10.1016/j.neurobiolaging.2018.06.034⟩. ⟨hal-02316569⟩
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