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Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).
Kim WD, Wilson-Smillie MLDM, Thanabalasingam A, Lefrancois S, Cotman SL, Huber RJ. Kim WD, et al. Among authors: cotman sl. Front Cell Dev Biol. 2022 Feb 16;10:812728. doi: 10.3389/fcell.2022.812728. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35252181 Free PMC article. Review.
CLN3, at the crossroads of endocytic trafficking.
Cotman SL, Lefrancois S. Cotman SL, et al. Neurosci Lett. 2021 Sep 25;762:136117. doi: 10.1016/j.neulet.2021.136117. Epub 2021 Jul 16. Neurosci Lett. 2021. PMID: 34274435 Free PMC article.
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Butz ES, Chandrachud U, Mole SE, Cotman SL. Butz ES, et al. Among authors: cotman sl. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165571. doi: 10.1016/j.bbadis.2019.165571. Epub 2019 Oct 31. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31678159 Free article. Review.
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Mole SE, Cotman SL. Mole SE, et al. Among authors: cotman sl. Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27. Biochim Biophys Acta. 2015. PMID: 26026925 Free PMC article. Review.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Among authors: cotman sl. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium. Berkovic SF, et al. Among authors: cotman sl. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL. Lojewski X, et al. Among authors: cotman sl. Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23. Hum Mol Genet. 2014. PMID: 24271013 Free PMC article.
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