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Page 1
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Dvela-Levitt M, et al. Among authors: alper sl. Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. Cell. 2019. PMID: 31348885 Free article.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Among authors: alper sl. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Eckardt KU, et al. Among authors: alper sl. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4. Kidney Int. 2015. PMID: 25738250 Free article.
APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases.
Olabisi OA, Zhang JY, VerPlank L, Zahler N, DiBartolo S 3rd, Heneghan JF, Schlöndorff JS, Suh JH, Yan P, Alper SL, Friedman DJ, Pollak MR. Olabisi OA, et al. Among authors: alper sl. Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):830-7. doi: 10.1073/pnas.1522913113. Epub 2015 Dec 23. Proc Natl Acad Sci U S A. 2016. PMID: 26699492 Free PMC article.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Živná M, et al. Among authors: alper sl. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2. J Am Soc Nephrol. 2018. PMID: 29967284 Free PMC article.
FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR. Subramanian B, et al. Among authors: alper sl. J Am Soc Nephrol. 2020 Feb;31(2):374-391. doi: 10.1681/ASN.2019050443. Epub 2020 Jan 10. J Am Soc Nephrol. 2020. PMID: 31924668 Free PMC article.
A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic.
Alimova M, Sidhom EH, Satyam A, Dvela-Levitt M, Melanson M, Chamberlain BT, Alper SL, Santos J, Gutierrez J, Subramanian A, Grinkevich E, Bricio ER, Kim C, Clark A, Watts A, Thompson R, Marshall J, Pablo JL, Coraor J, Roignot J, Vernon KA, Keller K, Campbell A, Emani M, Racette M, Bazua-Valenti S, Padovano V, Weins A, McAdoo SP, Tam FWK, Ronco L, Wagner F, Tsokos GC, Shaw JL, Greka A. Alimova M, et al. Among authors: alper sl. bioRxiv [Preprint]. 2020 Jun 30:2020.06.30.180380. doi: 10.1101/2020.06.30.180380. bioRxiv. 2020. PMID: 32637960 Free PMC article. Updated. Preprint.
A High-Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury.
Kost-Alimova M, Sidhom EH, Satyam A, Chamberlain BT, Dvela-Levitt M, Melanson M, Alper SL, Santos J, Gutierrez J, Subramanian A, Byrne PJ, Grinkevich E, Reyes-Bricio E, Kim C, Clark AR, Watts AJB, Thompson R, Marshall J, Pablo JL, Coraor J, Roignot J, Vernon KA, Keller K, Campbell A, Emani M, Racette M, Bazua-Valenti S, Padovano V, Weins A, McAdoo SP, Tam FWK, Ronco L, Wagner F, Tsokos GC, Shaw JL, Greka A. Kost-Alimova M, et al. Among authors: alper sl. Cell Rep Med. 2020 Oct 29;1(8):100137. doi: 10.1016/j.xcrm.2020.100137. eCollection 2020 Nov 17. Cell Rep Med. 2020. PMID: 33294858 Free PMC article.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Vylet'al P, Kidd K, Ainsworth HC, Springer D, Vrbacká A, Přistoupilová A, Hughey RP, Alper SL, Lennon N, Harrison S, Harden M, Robins V, Taylor A, Martin L, Howard K, Bitar I, Langefeld CD, Barešová V, Hartmannová H, Hodaňová K, Zima T, Živná M, Kmoch S, Bleyer AJ. Vylet'al P, et al. Among authors: alper sl. Am J Nephrol. 2021;52(5):378-387. doi: 10.1159/000515810. Epub 2021 Jun 7. Am J Nephrol. 2021. PMID: 34098564 Free PMC article.
366 results