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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Oftedal BE, et al. Among authors: vardi a. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. Immunity. 2015. PMID: 26084028 Free article.
Emerging therapeutic targets for Gaucher disease.
Vitner EB, Vardi A, Cox TM, Futerman AH. Vitner EB, et al. Among authors: vardi a. Expert Opin Ther Targets. 2015 Mar;19(3):321-34. doi: 10.1517/14728222.2014.981530. Epub 2014 Nov 21. Expert Opin Ther Targets. 2015. PMID: 25416676 Review.
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.
Pewzner-Jung Y, Joseph T, Blumenreich S, Vardi A, Ferreira NS, Cho SM, Eilam R, Tsoory M, Biton IE, Brumfeld V, Haffner-Krausz R, Brenner O, Sharabi N, Addadi Y, Salame TM, Rotkopf R, Wigoda N, Yayon N, Merrill AH Jr, Schiffmann R, Futerman AH. Pewzner-Jung Y, et al. Among authors: vardi a. Prog Neurobiol. 2021 Feb;197:101939. doi: 10.1016/j.pneurobio.2020.101939. Epub 2020 Nov 3. Prog Neurobiol. 2021. PMID: 33152398
Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
Schonauer S, Körschen HG, Penno A, Rennhack A, Breiden B, Sandhoff K, Gutbrod K, Dörmann P, Raju DN, Haberkant P, Gerl MJ, Brügger B, Zigdon H, Vardi A, Futerman AH, Thiele C, Wachten D. Schonauer S, et al. Among authors: vardi a. J Biol Chem. 2017 Apr 14;292(15):6177-6189. doi: 10.1074/jbc.M116.762831. Epub 2017 Mar 3. J Biol Chem. 2017. PMID: 28258214 Free PMC article.
269 results