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NK cell defects in X-linked pigmentary reticulate disorder.
Starokadomskyy P, Wilton KM, Krzewski K, Lopez A, Sifuentes-Dominguez L, Overlee B, Chen Q, Ray A, Gil-Krzewska A, Peterson M, Kinch LN, Rohena L, Grunebaum E, Zinn AR, Grishin NV, Billadeau DD, Burstein E. Starokadomskyy P, et al. Among authors: burstein e. JCI Insight. 2019 Nov 1;4(21):e125688. doi: 10.1172/jci.insight.125688. JCI Insight. 2019. PMID: 31672938 Free PMC article.
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E. Starokadomskyy P, et al. Among authors: burstein e. J Clin Invest. 2013 May;123(5):2244-56. doi: 10.1172/JCI66466. Epub 2013 Apr 8. J Clin Invest. 2013. PMID: 23563313 Free PMC article.
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.
Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H, Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M, McGaughran J, Gecz J, Sluis Bv, Billadeau DD, Burstein E. Phillips-Krawczak CA, et al. Among authors: burstein e. Mol Biol Cell. 2015 Jan 1;26(1):91-103. doi: 10.1091/mbc.E14-06-1073. Epub 2014 Oct 29. Mol Biol Cell. 2015. PMID: 25355947 Free PMC article.
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Bartuzi P, Billadeau DD, Favier R, Rong S, Dekker D, Fedoseienko A, Fieten H, Wijers M, Levels JH, Huijkman N, Kloosterhuis N, van der Molen H, Brufau G, Groen AK, Elliott AM, Kuivenhoven JA, Plecko B, Grangl G, McGaughran J, Horton JD, Burstein E, Hofker MH, van de Sluis B. Bartuzi P, et al. Among authors: burstein e. Nat Commun. 2016 Mar 11;7:10961. doi: 10.1038/ncomms10961. Nat Commun. 2016. PMID: 26965651 Free PMC article.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E. Starokadomskyy P, et al. Among authors: burstein e. Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28. Nat Immunol. 2016. PMID: 27019227 Free PMC article.
262 results