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Page 1
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. Among authors: botelho hm. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.
Lérias JR, Pinto MC, Botelho HM, Awatade NT, Quaresma MC, Silva IAL, Wanitchakool P, Schreiber R, Pepperkok R, Kunzelmann K, Amaral MD. Lérias JR, et al. Among authors: botelho hm. Biochim Biophys Acta Mol Cell Res. 2018 Feb;1865(2):421-431. doi: 10.1016/j.bbamcr.2017.11.009. Epub 2017 Nov 15. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29154949 Free article.
CFTR processing, trafficking and interactions.
Amaral MD, Hutt DM, Tomati V, Botelho HM, Pedemonte N. Amaral MD, et al. Among authors: botelho hm. J Cyst Fibros. 2020 Mar;19 Suppl 1:S33-S36. doi: 10.1016/j.jcf.2019.10.017. Epub 2019 Oct 31. J Cyst Fibros. 2020. PMID: 31680043 Free article. Review.
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva IAL, Doušová T, Ramalho S, Centeio R, Clarke LA, Railean V, Botelho HM, Holubová A, Valášková I, Yeh JT, Hwang TC, Farinha CM, Kunzelmann K, Amaral MD. Silva IAL, et al. Among authors: botelho hm. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165905. doi: 10.1016/j.bbadis.2020.165905. Epub 2020 Jul 28. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32730979 Free PMC article.
30 results