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Comment
. 2023 Jan;38(1):23-24.
doi: 10.1002/mds.29289. Epub 2022 Nov 24.

Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight

Alessio Di Fonzo  1 , Michael Zech  2   3
Affiliations
Comment

Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight

Alessio Di Fonzo et al. Mov Disord. 2023 Jan.
No abstract available

Keywords: NUP54; dystonia; nucleoporins; pore complex; torsinA.

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References

    1. Balint B, Mencacci NE, Valente EM, et al. Dystonia. Nat Rev Dis Primers 2018;4(1):25.
    1. Prophet SM, Rampello AJ, Niescier RF, et al. Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities. Nat Cell Biol 2022;24(11):1630-1641.
    1. Rampello AJ, Laudermilch E, Vishnoi N, et al. Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2. J Cell Biol 2020;219(6):e201910185.
    1. Harrer P, Schalk A, Shimura M, et al. Recessive NUP54 variants underlie early-onset dystonia with striatal lesions. Ann Neurol 2022. https://doi.org/10.1002/ana.26544. Online ahead of print.
    1. Basel-Vanagaite L, Muncher L, Straussberg R, et al. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 2006;60(2):214-222.

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