Article

Unexpected opposing biological effect of genetic risk factors for Parkinson’s disease

2019-07-14

Abstract excerpt

The additive effect of genetic risk variants on overall disease risk is a plausible but frequently unproven hypothesis. To test this hypothesis, we assessed the biological effect of combined glucocerebrosidase (GCase) and acid sphingomyelinase (ASM) deficiency. Variants in both glucocerebrosidase1 ( GBA1 ) and sphingomyelinase ( SMPD1 ) are genetic risk factors for Parkinson’s disease. Unexpectedly, ASM defici...

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Literature Corpus work: 1adc1613-533a-5863-8567-1bd1c7ed3c18
DOI: 10.1101/702340

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