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Zhou, V. C9orf72 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5020 (accessed on 22 September 2026).
Zhou V. C9orf72 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5020. Accessed September 22, 2026.
Zhou, Vicky. "C9orf72 Gene" Encyclopedia, https://encyclopedia.pub/entry/5020 (accessed September 22, 2026).
Zhou, V. (2020, December 24). C9orf72 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5020
Zhou, Vicky. "C9orf72 Gene." Encyclopedia. Web. 24 December, 2020.
C9orf72 Gene
Edit

chromosome 9 open reading frame 72

genes

References

  1. Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M,Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG,Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P,La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A,Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium,Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain.2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.
  2. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ,Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, HsiungGY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK,Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB,Graff-Radford NR, Rademakers R. Expanded GGGGCC hexanucleotide repeat innoncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011.
  3. Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, HalloranMA, Gleeson PA, Blair IP, Soo KY, King AE, Atkin JD. C9ORF72, implicated inamytrophic lateral sclerosis and frontotemporal dementia, regulates endosomaltrafficking. Hum Mol Genet. 2014 Jul 1;23(13):3579-95. doi: 10.1093/hmg/ddu068.
  4. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A,Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD,Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; Frenchresearch network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S,Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM,Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, TsujiS, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, TienariPJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Frequency of the C9orf72hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosisand frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1.
  5. Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y,Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, RogeljB, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ,Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, deBelleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr,Weale ME, Al-Chalabi A, Shaw CE. The C9ORF72 expansion mutation is a common causeof ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98.
  6. Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, DaleyEL, 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. TheC9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature. 2015 Sep3;525(7567):56-61. doi: 10.1038/nature14973.
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