Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 130

1.

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.

Nature. 2015 Sep 3;525(7567):56-61. doi: 10.1038/nature14973. Epub 2015 Aug 26.

2.

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.

Nature. 2015 Sep 3;525(7567):129-33. doi: 10.1038/nature14974. Epub 2015 Aug 26.

3.

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.

Stepto A, Gallo JM, Shaw CE, Hirth F.

Acta Neuropathol. 2014 Mar;127(3):377-89. doi: 10.1007/s00401-013-1235-1. Epub 2013 Dec 24. Review.

PMID:
24366528
4.

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.

Esanov R, Cabrera GT, Andrade NS, Gendron TF, Brown RH Jr, Benatar M, Wahlestedt C, Mueller C, Zeier Z.

Mol Neurodegener. 2017 Jun 12;12(1):46. doi: 10.1186/s13024-017-0185-9.

5.

Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.

Zhou B, Liu C, Geng Y, Zhu G.

Sci Rep. 2015 Nov 13;5:16673. doi: 10.1038/srep16673.

6.

Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models.

Yuva-Aydemir Y, Almeida S, Gao FB.

Trends Neurosci. 2018 Jul;41(7):457-469. doi: 10.1016/j.tins.2018.04.002. Epub 2018 May 2. Review.

7.

Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD.

Zhang K, Grima JC, Rothstein JD, Lloyd TE.

Nucleus. 2016 Apr 25;7(2):132-7. doi: 10.1080/19491034.2016.1172152. Epub 2016 Apr 26. Review.

8.

NEUROSCIENCE. Plugged pores may underlie some ALS, dementia cases.

Underwood E.

Science. 2015 Aug 28;349(6251):911-2. doi: 10.1126/science.349.6251.911. No abstract available.

PMID:
26315413
9.

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

van Blitterswijk M, Rademakers R.

Nat Rev Neurol. 2015 Dec;11(12):670-2. doi: 10.1038/nrneurol.2015.219. Epub 2015 Nov 3. No abstract available.

PMID:
26526532
10.

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J.

Nature. 2014 Mar 13;507(7491):195-200. doi: 10.1038/nature13124. Epub 2014 Mar 5.

11.

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.

Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH.

Sci Transl Med. 2013 Oct 23;5(208):208ra149. doi: 10.1126/scitranslmed.3007529.

12.

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K.

Stem Cells. 2016 Aug;34(8):2063-78. doi: 10.1002/stem.2388. Epub 2016 May 4.

13.

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration.

Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7778-83. doi: 10.1073/pnas.1219643110. Epub 2013 Apr 3.

14.

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.

Zhang K, Daigle JG, Cunningham KM, Coyne AN, Ruan K, Grima JC, Bowen KE, Wadhwa H, Yang P, Rigo F, Taylor JP, Gitler AD, Rothstein JD, Lloyd TE.

Cell. 2018 May 3;173(4):958-971.e17. doi: 10.1016/j.cell.2018.03.025. Epub 2018 Apr 5.

15.

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.

Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, Cairns NJ, Boylan KB, Dickson DW, Rademakers R, Zhang YJ, Petrucelli L, Sattler R, Zarnescu DC, Glass JD, Rossoll W.

Nat Neurosci. 2018 Feb;21(2):228-239. doi: 10.1038/s41593-017-0047-3. Epub 2018 Jan 8.

16.

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.

Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB.

Acta Neuropathol. 2013 Sep;126(3):385-99. doi: 10.1007/s00401-013-1149-y. Epub 2013 Jul 9. Erratum in: Acta Neuropathol. 2014 Jun;127(6):941.

17.

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.

Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR; ITALSGEN Consortium, NeuroX Consortium, Kirby J, Shaw PJ.

Hum Mol Genet. 2017 Mar 15;26(6):1133-1145. doi: 10.1093/hmg/ddx022.

18.

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD.

Neuron. 2013 Oct 16;80(2):415-28. doi: 10.1016/j.neuron.2013.10.015. Erratum in: Neuron. 2013 Nov 20;80(4):1102. Heusler, Aaron R [corrected to Haeusler, Aaron R].

19.

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.

Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AGL, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJA.

Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024. Erratum in: Brain. 2018 May 1;141(5):e42.

PMID:
28334866
20.

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.

Moens TG, Mizielinska S, Niccoli T, Mitchell JS, Thoeng A, Ridler CE, Grönke S, Esser J, Heslegrave A, Zetterberg H, Partridge L, Isaacs AM.

Acta Neuropathol. 2018 Mar;135(3):445-457. doi: 10.1007/s00401-017-1798-3. Epub 2018 Jan 29.

Supplemental Content

Support Center