Article

Rare <i>PSAP</i> variants and possible interaction with <i>GBA</i> in REM sleep behavior disorder

2021-07-16

Abstract excerpt

PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA . Since GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy, we examined the role of PSAP mutations in iRBD. We fully sequenced PSAP and performed Optimized Sequence Kernel Association Test in 1,113 iRBD patients and 2,324 controls. We identified loss-of-function...

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Literature Corpus work: 11e9122d-c999-5dd2-b4c8-815d8f3aced0
DOI: 10.1101/2021.07.13.21258405

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