GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

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 Joo Kim, Fen-Biao Gao () and J. Paul Taylor ()
Additional contact information
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

Nature, 2015, vol. 525, issue 7567, 129-133

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.

Date: 2015
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DOI: 10.1038/nature14974

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