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Page 1
The CLN3 gene and protein: What we know.
Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett LJ, Palmieri M, Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich DM. Mirza M, et al. Among authors: chandrachud u. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568712 Free PMC article. Review.
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: chandrachud u. 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.
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL. Chandrachud U, et al. J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15. J Biol Chem. 2015. PMID: 25878248 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: chandrachud u. 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.