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Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.
Tafaleng EN, Chakraborty S, Han B, Hale P, Wu W, Soto-Gutierrez A, Feghali-Bostwick CA, Wilson AA, Kotton DN, Nagaya M, Strom SC, Roy-Chowdhury J, Stolz DB, Perlmutter DH, Fox IJ. Tafaleng EN, et al. Among authors: perlmutter dh. Hepatology. 2015 Jul;62(1):147-57. doi: 10.1002/hep.27753. Epub 2015 Apr 13. Hepatology. 2015. PMID: 25690322 Free PMC article.
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.
Long OS, Benson JA, Kwak JH, Luke CJ, Gosai SJ, O'Reilly LP, Wang Y, Li J, Vetica AC, Miedel MT, Stolz DB, Watkins SC, Züchner S, Perlmutter DH, Silverman GA, Pak SC. Long OS, et al. Among authors: perlmutter dh. Hum Mol Genet. 2014 Oct 1;23(19):5109-22. doi: 10.1093/hmg/ddu235. Epub 2014 May 16. Hum Mol Genet. 2014. PMID: 24838286 Free PMC article.
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy.
Hidvegi T, Stolz DB, Alcorn JF, Yousem SA, Wang J, Leme AS, Houghton AM, Hale P, Ewing M, Cai H, Garchar EA, Pastore N, Annunziata P, Kaminski N, Pilewski J, Shapiro SD, Pak SC, Silverman GA, Brunetti-Pierri N, Perlmutter DH. Hidvegi T, et al. Among authors: perlmutter dh. J Biol Chem. 2015 Dec 11;290(50):29742-57. doi: 10.1074/jbc.M115.691253. Epub 2015 Oct 22. J Biol Chem. 2015. PMID: 26494620 Free PMC article.
177 results