The effect of LRRK2 loss-of-function variants in humans.

doi:10.1038/s41591-020-0893-5

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Article

The effect of LRRK2 loss-of-function variants in humans.

Nature medicine - 1 Jun 2020

Whiffin Nicola, Armean Irina M, Kleinman Aaron, Marshall Jamie L, Minikel Eric V, Goodrich Julia K, Quaife Nicholas M, Cole Joanne B, Wang Qingbo, Karczewski Konrad J, Cummings Beryl B, Francioli Laurent, Laricchia Kristen, Guan Anna, Alipanahi Babak, Morrison Peter, Baptista Marco A S, Merchant Kalpana M, Ware James S, Havulinna Aki S, Iliadou Bozenna, Lee Jung-Jin, Nadkarni Girish N, Whiteman Cole, Daly Mark, Esko Tõnu, Hultman Christina, Loos Ruth J F, Milani Lili, Palotie Aarno, Pato Carlos, Pato Michele, Saleheen Danish, Sullivan Patrick F, Alföldi Jessica, Cannon Paul, MacArthur Daniel G

Abstract excerpt

Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes1,2. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson's disease3,4, suggesting that...

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PMID: 32461697
DOI: 10.1038/s41591-020-0893-5
PMCID: PMC7303015

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