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Page 1
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
Sauer AV, Hernandez RJ, Fumagalli F, Bianchi V, Poliani PL, Dallatomasina C, Riboni E, Politi LS, Tabucchi A, Carlucci F, Casiraghi M, Carriglio N, Cominelli M, Forcellini CA, Barzaghi F, Ferrua F, Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A. Sauer AV, et al. Among authors: hernandez rj. Sci Rep. 2017 Jan 11;7:40136. doi: 10.1038/srep40136. Sci Rep. 2017. PMID: 28074903 Free PMC article.
Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects.
Mortellaro A, Hernandez RJ, Guerrini MM, Carlucci F, Tabucchi A, Ponzoni M, Sanvito F, Doglioni C, Di Serio C, Biasco L, Follenzi A, Naldini L, Bordignon C, Roncarolo MG, Aiuti A. Mortellaro A, et al. Among authors: hernandez rj. Blood. 2006 Nov 1;108(9):2979-88. doi: 10.1182/blood-2006-05-023507. Epub 2006 Jul 11. Blood. 2006. PMID: 16835374 Free article.
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency.
Sauer AV, Mrak E, Hernandez RJ, Zacchi E, Cavani F, Casiraghi M, Grunebaum E, Roifman CM, Cervi MC, Ambrosi A, Carlucci F, Roncarolo MG, Villa A, Rubinacci A, Aiuti A. Sauer AV, et al. Among authors: hernandez rj. Blood. 2009 Oct 8;114(15):3216-26. doi: 10.1182/blood-2009-03-209221. Epub 2009 Jul 24. Blood. 2009. PMID: 19633200 Free article. Clinical Trial.
Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID.
Sauer AV, Brigida I, Carriglio N, Hernandez RJ, Scaramuzza S, Clavenna D, Sanvito F, Poliani PL, Gagliani N, Carlucci F, Tabucchi A, Roncarolo MG, Traggiai E, Villa A, Aiuti A. Sauer AV, et al. Among authors: hernandez rj. Blood. 2012 Feb 9;119(6):1428-39. doi: 10.1182/blood-2011-07-366781. Epub 2011 Dec 19. Blood. 2012. PMID: 22184407 Free PMC article. Clinical Trial.
Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice.
Carriglio N, Klapwijk J, Hernandez RJ, Vezzoli M, Chanut F, Lowe R, Draghici E, Nord M, Albertini P, Cristofori P, Richards J, Staton H, Appleby J, Aiuti A, Sauer AV. Carriglio N, et al. Among authors: hernandez rj. Hum Gene Ther Clin Dev. 2017 Mar;28(1):17-27. doi: 10.1089/humc.2016.191. Hum Gene Ther Clin Dev. 2017. PMID: 28319446
Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity.
Crippa S, Rossella V, Aprile A, Silvestri L, Rivis S, Scaramuzza S, Pirroni S, Avanzini MA, Basso-Ricci L, Hernandez RJ, Zecca M, Marktel S, Ciceri F, Aiuti A, Ferrari G, Bernardo ME. Crippa S, et al. Among authors: hernandez rj. J Clin Invest. 2019 Feb 25;129(4):1566-1580. doi: 10.1172/JCI123191. eCollection 2019 Feb 25. J Clin Invest. 2019. PMID: 30830876 Free PMC article.
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.
Zoccolillo M, Brigida I, Barzaghi F, Scala S, Hernández RJ, Basso-Ricci L, Colantuoni M, Pettinato E, Sergi LS, Milardi G, Capasso P, Lombardo A, Gregori S, Sanvito F, Schena F, Cesaro S, Conti F, Pession A, Benedetti F, Gattorno M, Lee PY, Naldini L, Cicalese MP, Aiuti A, Mortellaro A. Zoccolillo M, et al. Among authors: hernandez rj. Blood Adv. 2021 Aug 24;5(16):3174-3187. doi: 10.1182/bloodadvances.2020003811. Blood Adv. 2021. PMID: 34424322 Free PMC article.
156 results