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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

Author

Listed:
  • Brian D. Freibaum

    (St Jude Children’s Research Hospital)

  • Yubing Lu

    (University of Massachusetts Medical School)

  • Rodrigo Lopez-Gonzalez

    (University of Massachusetts Medical School)

  • Nam Chul Kim

    (St Jude Children’s Research Hospital)

  • Sandra Almeida

    (University of Massachusetts Medical School)

  • Kyung-Ha Lee

    (St Jude Children’s Research Hospital)

  • Nisha Badders

    (St Jude Children’s Research Hospital)

  • Marc Valentine

    (St Jude Children’s Research Hospital)

  • Bruce L. Miller

    (Memory and Aging Center, University of California San Francisco)

  • Philip C. Wong

    (The Johns Hopkins University School of Medicine)

  • Leonard Petrucelli

    (Mayo Clinic Florida)

  • Hong Joo Kim

    (St Jude Children’s Research Hospital)

  • Fen-Biao Gao

    (University of Massachusetts Medical School)

  • J. Paul Taylor

    (Howard Hughes Medical Institute, St Jude Children’s Research Hospital)

Abstract

An unbiased genetic screen in Drosophila expressing G4C2-repeat-containing transcripts (repeats that in human cause pathogenesis in C9orf72-related neurological disease) finds genes that encode components of the nuclear pore and nucleocytoplasmic transport machinery, and reveals that G4C2 expanded-repeat-induced alterations in nucleocytoplasmic transport contribute to C9orf72 pathology and neurodegeneration.

Suggested Citation

  • Brian D. Freibaum & Yubing Lu & Rodrigo Lopez-Gonzalez & Nam Chul Kim & Sandra Almeida & Kyung-Ha Lee & Nisha Badders & Marc Valentine & Bruce L. Miller & Philip C. Wong & Leonard Petrucelli & Hong Jo, 2015. "GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport," Nature, Nature, vol. 525(7567), pages 129-133, September.
    • Handle: RePEc:nat:nature:v:525:y:2015:i:7567:d:10.1038_nature14974
    DOI: 10.1038/nature14974
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    Cited by:

    1. Salim Megat & Natalia Mora & Jason Sanogo & Olga Roman & Alberto Catanese & Najwa Ouali Alami & Axel Freischmidt & Xhuljana Mingaj & Hortense Calbiac & François Muratet & Sylvie Dirrig-Grosch & Stépha, 2023. "Integrative genetic analysis illuminates ALS heritability and identifies risk genes," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    2. Hong Joo Kim & Payam Mohassel & Sandra Donkervoort & Lin Guo & Kevin O’Donovan & Maura Coughlin & Xaviere Lornage & Nicola Foulds & Simon R. Hammans & A. Reghan Foley & Charlotte M. Fare & Alice F. Fo, 2022. "Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    3. Junhao Li & Manoj K. Jaiswal & Jo-Fan Chien & Alexey Kozlenkov & Jinyoung Jung & Ping Zhou & Mahammad Gardashli & Luc J. Pregent & Erica Engelberg-Cook & Dennis W. Dickson & Veronique V. Belzil & Eran, 2023. "Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation," Nature Communications, Nature, vol. 14(1), pages 1-22, December.
    4. Amanda M. Gleixner & Brandie Morris Verdone & Charlton G. Otte & Eric N. Anderson & Nandini Ramesh & Olivia R. Shapiro & Jenna R. Gale & Jocelyn C. Mauna & Jacob R. Mann & Katie E. Copley & Elizabeth , 2022. "NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility," Nature Communications, Nature, vol. 13(1), pages 1-17, December.

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