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Comment
. 2021 Mar;36(3):609.
doi: 10.1002/mds.28511. Epub 2021 Jan 26.

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding

Carolina Gorodetsky  1 , Alfonso Fasano  1   2   3   4   5
Affiliations
Comment

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding

Carolina Gorodetsky et al. Mov Disord. 2021 Mar.
No abstract available

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Comment on

  • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
    Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683

References

    1. Kumar KR, Davis RL, Tchan MC, et al. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism Relat Disord 2019;69:111-118.
    1. Cai X, Chen X, Wu S, et al. Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep 2016;6:1-10.
    1. Steel D, Zech M, Zhao C, et al. Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities. Ann Neurol 2020;88:867-877.
    1. Pott H, Bruggemann N, Reese R, et al. Truncating VPS16 mutations are rare in early-onset dystonia. Ann Neurol 2020. https://doi.org/10.1002/ana.25990
    1. Ruan Q, Harrington AJ, Caldwell KA, Caldwell GA, Standaert DG. VPS41, a protein involved in lysosomal trafficking, is protective in Caenorhabditis elegans and mammalian cellular models of Parkinson's disease. Neurobiol Dis 2010;37:330-338.

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