1. The effect of LRRK2 loss-of-function variants in humans
- Author
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Nicola, Whiffin, Irina M, Armean, Aaron, Kleinman, Jamie L, Marshall, Eric V, Minikel, Julia K, Goodrich, Nicholas M, Quaife, Joanne B, Cole, Qingbo, Wang, Konrad J, Karczewski, Beryl B, Cummings, Laurent, Francioli, Kristen, Laricchia, Anna, Guan, Babak, Alipanahi, Peter, Morrison, Marco A S, Baptista, Kalpana M, Merchant, James S, Ware, Aki S, Havulinna, Bozenna, Iliadou, Jung-Jin, Lee, Girish N, Nadkarni, Cole, Whiteman, Mark, Daly, Tõnu, Esko, Christina, Hultman, Ruth J F, Loos, Lili, Milani, Aarno, Palotie, Carlos, Pato, Michele, Pato, Danish, Saleheen, Patrick F, Sullivan, Jessica, Alföldi, Paul, Cannon, and Catherine H, Wilson
- Subjects
Adult ,Aged, 80 and over ,Male ,Heterozygote ,Longevity ,Parkinson Disease ,Middle Aged ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Cell Line ,Phenotype ,Loss of Function Mutation ,Gain of Function Mutation ,Humans ,Female ,Myocytes, Cardiac ,Lymphocytes ,Author Correction ,Embryonic Stem Cells ,Aged ,Biological Specimen Banks - Abstract
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 genes
- Published
- 2020