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Zhou, V. CLN6 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5157 (accessed on 22 September 2026).
Zhou V. CLN6 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5157. Accessed September 22, 2026.
Zhou, Vicky. "CLN6 Gene" Encyclopedia, https://encyclopedia.pub/entry/5157 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CLN6 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5157
Zhou, Vicky. "CLN6 Gene." Encyclopedia. Web. 24 December, 2020.
CLN6 Gene
Edit

CLN6, transmembrane ER protein

genes

References

  1. Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ,Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, FarrellM, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Kufs disease, the major adult form of neuronal ceroidlipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011 May13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004.
  2. Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M,Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N,Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroidlipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul28;85(4):316-24. doi: 10.1212/WNL.0000000000001784.
  3. Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, CilioMR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE,Nardocci N, Santorelli FM. Variant late infantile ceroid lipofuscinosesassociated with novel mutations in CLN6. Biochem Biophys Res Commun. 2009 Feb20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159.
  4. Kay C. Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. Clin Genet. 2011Dec;80(6):505-6. doi: 10.1111/j.1399-0004.2011.01761.x.
  5. Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T. Pathogenicmutations cause rapid degradation of lysosomal storage disease-related membraneprotein CLN6. Hum Mutat. 2010 Feb;31(2):E1163-74. doi: 10.1002/humu.21184.
  6. Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H,Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroidlipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 Oct;38(9):852-6.doi: 10.1016/j.braindev.2016.04.007.
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Update Date: 24 Dec 2020
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