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Publications indexed to the term Fabry Disease

FacultyTitle
1Progress in the understanding and treatment of Fabry disease. (Miller JJ, Kanack AJ, Dahms NM) Biochim Biophys Acta Gen Subj 2020 01;1864(1):129437       4 Citations
3α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease. (Miller JJ, Aoki K, Mascari CA, Beltrame AK, Sokumbi O, North PE, Tiemeyer M, Kriegel AJ, Dahms NM) FASEB J 2019 01;33(1):418-429       4 Citations
2Neuropathic pain in a Fabry disease rat model. (Miller JJ, Aoki K, Moehring F, Murphy CA, O'Hara CL, Tiemeyer M, Stucky CL, Dahms NM) JCI Insight 2018 03 22;3(6)       10 Citations
1Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry. (Provençal P, Boutin M, Dworski S, Au B, Medin JA, Auray-Blais C) Bioanalysis 2016 Sep;8(17):1793-807       8 Citations
1Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome. (Farooq S, Hiner BC, Rhead WJ, Kirschner AL, Chelimsky TC) JAMA Neurol 2016 08 01;73(8):1020-1       1 Citation
1Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice. (Pacienza N, Yoshimitsu M, Mizue N, Au BC, Wang JC, Fan X, Takenaka T, Medin JA) Mol Ther 2012 Jul;20(7):1454-61       13 Citations
1Engineered human Tmpk fused with truncated cell-surface markers: versatile cell-fate control safety cassettes. (Scaife M, Pacienza N, Au BC, Wang JC, Devine S, Scheid E, Lee CJ, Lopez-Perez O, Neschadim A, Fowler DH, Foley R, Medin JA) Gene Ther 2013 Jan;20(1):24-34       12 Citations
1Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity. (Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T) J Cardiol 2011 May;57(3):345-53       9 Citations
1Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease. (Lee CJ, Fan X, Guo X, Medin JA) J Cardiol 2011 Jan;57(1):115-22       28 Citations
1Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice. (Higuchi K, Yoshimitsu M, Fan X, Guo X, Rasaiah VI, Yen J, Tei C, Takenaka T, Medin JA) Mol Med 2010 May-Jun;16(5-6):216-21       10 Citations
1Sequencing and characterization of the porcine α-galactosidase A gene: towards the generation of a porcine model for Fabry disease. (Yoshimitsu M, Higuchi K, Fan X, Takao S, Medin JA, Tei C, Takenaka T) Mol Biol Rep 2011 Jun;38(5):3145-52       1 Citation
1Anti-CD25 targeted killing of bicistronically transduced cells: a novel safety mechanism against retroviral genotoxicity. (Ramsubir S, Yoshimitsu M, Medin JA) Mol Ther 2007 Jun;15(6):1174-81       8 Citations
1Multiple reduced-intensity conditioning regimens facilitate correction of Fabry mice after transplantation of transduced cells. (Liang SB, Yoshimitsu M, Poeppl A, Rasaiah VI, Cai J, Fowler DH, Medin JA) Mol Ther 2007 Mar;15(3):618-27       11 Citations
1Correction of cardiac abnormalities in fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of alpha-galactosidase A. (Yoshimitsu M, Higuchi K, Dawood F, Rasaiah VI, Ayach B, Chen M, Liu P, Medin JA) Circ J 2006 Nov;70(11):1503-8       29 Citations
1Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells. (Yoshimitsu M, Higuchi K, Ramsubir S, Nonaka T, Rasaiah VI, Siatskas C, Liang SB, Murray GJ, Brady RO, Medin JA) Gene Ther 2007 Feb;14(3):256-65       34 Citations
1Lack of susceptibility of cells from patients with Fabry disease to productive infection with R5 human immunodeficiency virus. (Lund N, Branch DR, Sakac D, Lingwood CA, Siatskas C, Robinson CJ, Brady RO, Medin JA) AIDS 2005 Sep 23;19(14):1543-6       26 Citations
1Enhanced filter paper enzyme assay for high-throughput population screening for Fabry disease. (Poeppl AG, Murray GJ, Medin JA) Anal Biochem 2005 Feb 01;337(1):161-3       7 Citations
1Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors. (Yoshimitsu M, Sato T, Tao K, Walia JS, Rasaiah VI, Sleep GT, Murray GJ, Poeppl AG, Underwood J, West L, Brady RO, Medin JA) Proc Natl Acad Sci U S A 2004 Nov 30;101(48):16909-14       74 Citations
1Gene therapy for Fabry disease. (Siatskas C, Medin JA) J Inherit Metab Dis 2001;24 Suppl 2:25-41; discussion 11-2       30 Citations
1Preselective gene therapy for Fabry disease. (Qin G, Takenaka T, Telsch K, Kelley L, Howard T, Levade T, Deans R, Howard BH, Malech HL, Brady RO, Medin JA) Proc Natl Acad Sci U S A 2001 Mar 13;98(6):3428-33       62 Citations
1Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. (Takenaka T, Murray GJ, Qin G, Quirk JM, Ohshima T, Qasba P, Clark K, Kulkarni AB, Brady RO, Medin JA) Proc Natl Acad Sci U S A 2000 Jun 20;97(13):7515-20       78 Citations
1Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. (Takenaka T, Qin G, Brady RO, Medin JA) Hum Gene Ther 1999 Aug 10;10(12):1931-9       35 Citations
1Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease. (Takenaka T, Hendrickson CS, Tworek DM, Tudor M, Schiffmann R, Brady RO, Medin JA) Exp Hematol 1999 Jul;27(7):1149-59       32 Citations
1Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. (Medin JA, Tudor M, Simovitch R, Quirk JM, Jacobson S, Murray GJ, Brady RO) Proc Natl Acad Sci U S A 1996 Jul 23;93(15):7917-22       58 Citations
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