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Comment
. 2020 Oct;35(10):1754.
doi: 10.1002/mds.28291. Epub 2020 Sep 24.

LRRK2 Loss-of-Function Variants: When Less Is More

Tatiana Usnich  1 , Ana Westenberger  1
Affiliations
Comment

LRRK2 Loss-of-Function Variants: When Less Is More

Tatiana Usnich et al. Mov Disord. 2020 Oct.
No abstract available

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Comment on

  • The effect of LRRK2 loss-of-function variants in humans.
    Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Nat Med. 2020. PMID: 32461697 Free PMC article.

References

    1. Tolosa E, Vila M, Klein C, Rascol O. LRRK2 in Parkinson disease: challenges of clinical trials. Nat Rev Neurol 2020;16(2):97-107. https://doi.org/10.1038/s41582-019-0301-2.
    1. Fuji RN, Flagella M, Baca M, et al. Effect of selective LRRK2 kinase inhibition on nonhuman primate lung. Sci Transl Med 2015;7(273):273ra15. https://doi.org/10.1126/scitranslmed.aaa3634.
    1. Whiffin N, Armean IM, Kleinman A, et al. The effect of LRRK2 loss-of-function variants in humans. Nat Med 2020;26(6):869-877. https://doi.org/10.1038/s41591-020-0893-5.
    1. Blauwendraat C, Reed X, Kia DA, et al. Frequency of loss of function variants in LRRK2 in Parkinson disease. JAMA Neurol 2018;75(11):1416-1422. https://doi.org/10.1001/jamaneurol.2018.1885.
    1. Giaime E, Tong Y, Wagner LK, Yuan Y, Huang G, Shen J. Age-dependent dopaminergic neurodegeneration and impairment of the autophagy-lysosomal pathway in LRRK-deficient mice. Neuron 2017;96(4):796-807.e6. https://doi.org/10.1016/j.neuron.2017.09.036.

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