| 1 | Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial. (Khan A, Barber DL, McKillop WM, Rupar CA, Auray-Blais C, Fraser G, Fowler DH, Berger A, Foley R, Keating A, West ML, Medin JA) Clin Transl Med 2025 Jan;15(1):e70073 |
| 2 | Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease. (Kanack AJ, Prodoehl E, Ishihara-Aoki M, Aoki K, Dahms NM) Sci Rep 2024 Nov 27;14(1):29488 1 Citation |
| 2 | Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities. (Erdman ME, Ch S, Mohiuddin A, Al-Kirwi K, Rasper MR, Sokupa S, Low SWY, Skumatz CMB, De Stefano V, Kassem IS, Chaurasia SS) Invest Ophthalmol Vis Sci 2024 Aug 01;65(10):14 |
| 1 | Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. (Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG) J Med Genet 2024 May 21;61(6):520-530 41 Citations |
| 2 | Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. (Nagree MS, Felizardo TC, Faber ML, Rybova J, Rupar CA, Foley SR, Fuller M, Fowler DH, Medin JA) EMBO Mol Med 2022 Apr 07;14(4):e14297 11 Citations |
| 1 | Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing. (Domm JM, Wootton SK, Medin JA, West ML) Mol Genet Metab 2021;134(1-2):117-131 39 Citations |
| 2 | Platelet and myeloid cell phenotypes in a rat model of Fabry disease. (Kanack AJ, Aoki K, Tiemeyer M, Dahms NM) FASEB J 2021 Aug;35(8):e21818 4 Citations |
| 1 | Lentivirus-mediated gene therapy for Fabry disease. (Khan A, Barber DL, Huang J, Rupar CA, Rip JW, Auray-Blais C, Boutin M, O'Hoski P, Gargulak K, McKillop WM, Fraser G, Wasim S, LeMoine K, Jelinski S, Chaudhry A, Prokopishyn N, Morel CF, Couban S, Duggan PR, Fowler DH, Keating A, West ML, Foley R, Medin JA) Nat Commun 2021 Feb 25;12(1):1178 113 Citations |
| 1 | Fabry disease pain: patient and preclinical parallels. (Burand AJ Jr, Stucky CL) Pain 2021 May 01;162(5):1305-1321 47 Citations |
| 1 | Progress in the understanding and treatment of Fabry disease. (Miller JJ, Kanack AJ, Dahms NM) Biochim Biophys Acta Gen Subj 2020 Jan;1864(1):129437 94 Citations |
| 2 | Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease. (Miller JJ, Aoki K, Reid CA, Tiemeyer M, Dahms NM, Kassem IS) Sci Rep 2019 Jun 28;9(1):9392 9 Citations |
| 4 | α-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 Jan;33(1):418-429 25 Citations |
| 3 | Neuropathic 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 Mar 22;3(6) 58 Citations |
| 1 | Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome. (Farooq S, Hiner BC, Rhead WJ, Kirschner AL, Chelimsky TC) JAMA Neurol 2016 Aug 01;73(8):1020-1 2 Citations |
| 1 | Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging. (Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V) Anal Bioanal Chem 2015 Mar;407(8):2283-91 18 Citations |
| 1 | Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. (Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke JT, Steiner RD, Beck M, Barshop BA, Rhead W, West M, Martin R, Amato D, Nair N, Huertas P) Genet Med 2013 Dec;15(12):983-9 23 Citations |
| 1 | Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population. (Aldemir O, Ergun P, Güneş S, Köroğlu OA, Yalaz M, Kültürsay N, Coker M, Sözmen EY) Eur J Pediatr 2013 Sep;172(9):1221-7 4 Citations |
| 1 | Lentivector 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 25 Citations |
| 1 | Identification 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 17 Citations |
| 1 | Promoter-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 37 Citations |
| 1 | Alpha-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;16(5-6):216-21 14 Citations |
| 1 | Sequencing 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 5 Citations |
| 1 | Agalsidase alfa and kidney dysfunction in Fabry disease. (West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R) J Am Soc Nephrol 2009 May;20(5):1132-9 165 Citations |
| 1 | Anti-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 |
| 1 | Correction 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 31 Citations |
| 1 | Efficient 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 47 Citations |
| 1 | Enhanced 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 |
| 1 | IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia. (Baker SA, Freeman K, Luby-Phelps K, Pazour GJ, Besharse JC) J Biol Chem 2003 Sep 05;278(36):34211-8 122 Citations |
| 1 | Preselective 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 72 Citations |
| 1 | Long-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 93 Citations |
| 1 | Circulating 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 46 Citations |
| 1 | Enzymatic 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 39 Citations |
| 1 | Correction 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 72 Citations |
