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Comment

. 2015 Dec;11(12):670-2.

doi: 10.1038/nrneurol.2015.219. Epub 2015 Nov 3.

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport

Marka van Blitterswijk¹, Rosa Rademakers¹

Affiliations

PMID: 26526532
DOI: 10.1038/nrneurol.2015.219

Comment

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport

Marka van Blitterswijk et al. Nat Rev Neurol. 2015 Dec.

. 2015 Dec;11(12):670-2.

doi: 10.1038/nrneurol.2015.219. Epub 2015 Nov 3.

Authors

Marka van Blitterswijk¹, Rosa Rademakers¹

Affiliation

¹ Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

PMID: 26526532
DOI: 10.1038/nrneurol.2015.219

No abstract available

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Comment on

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, Gupta S, Thomas MA, Hong I, Chiu SL, Huganir RL, Ostrow LW, Matunis MJ, Wang J, Sattler R, Lloyd TE, Rothstein JD. Zhang K, et al. Nature. 2015 Sep 3;525(7567):56-61. doi: 10.1038/nature14973. Epub 2015 Aug 26. Nature. 2015. PMID: 26308891 Free PMC article.
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, Petrucelli L, Kim HJ, Gao FB, Taylor JP. Freibaum BD, et al. Nature. 2015 Sep 3;525(7567):129-33. doi: 10.1038/nature14974. Epub 2015 Aug 26. Nature. 2015. PMID: 26308899 Free PMC article.
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
Jovičić A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW 3rd, Sun S, Herdy JR, Bieri G, Kramer NJ, Gage FH, Van Den Bosch L, Robberecht W, Gitler AD. Jovičić A, et al. Nat Neurosci. 2015 Sep;18(9):1226-9. doi: 10.1038/nn.4085. Nat Neurosci. 2015. PMID: 26308983 Free PMC article.

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References

1. Ann Neurol. 2015 Oct;78(4):568-83 - PubMed
1. Neuron. 2011 Oct 20;72(2):245-56 - PubMed
1. Science. 2006 Oct 6;314(5796):130-3 - PubMed
1. Acta Neuropathol. 2015 Dec;130(6):845-61 - PubMed
1. Neuron. 2011 Oct 20;72(2):257-68 - PubMed

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