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Gaucher disease: resetting the clinical and scientific agenda.

Mistry PK, Weinreb NJ, Brady RO, Grabowski GA.

Am J Hematol. 2009 Apr;84(4):205-7. No abstract available. PMID: 19296473 [PubMed - indexed for MEDLINE]Related articles

WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia.

Timmons MM, Garbern J, Robey PG, Singleton A, Hernandez DG, Roodman GD, Zaltz I, Mumm S, Wilcox W, Fischbeck KH, Brady RO, Knight MA.

J Bone Miner Res. 2008 Nov 18. [Epub ahead of print]PMID: 19016590 [PubMed - as supplied by publisher]Related articles

Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study.

Gupta SN, Ries M, Murray GJ, Quirk JM, Brady RO, Lidicker JR, Schiffmann R, Moore DF.

BMC Neurol. 2008 Nov 6;8:41.PMID: 18990229 [PubMed - indexed for MEDLINE]Related articlesFree article

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

Rodrigues LG, Ferraz MJ, Rodrigues D, Pais-Vieira M, Lima D, Brady RO, Sousa MM, Sá-Miranda MC.

Neurobiol Dis. 2009 Jan;33(1):48-56. Epub 2008 Sep 23.PMID: 18848893 [PubMed - indexed for MEDLINE]Related articles

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Shin SH, Kluepfel-Stahl S, Cooney AM, Kaneski CR, Quirk JM, Schiffmann R, Brady RO, Murray GJ.

Pharmacogenet Genomics. 2008 Sep;18(9):773-80.PMID: 18698230 [PubMed - indexed for MEDLINE]Related articlesFree article

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.

Di Rocco M, Giona F, Carubbi F, Linari S, Minichilli F, Brady RO, Mariani G, Cappellini MD.

Haematologica. 2008 Aug;93(8):1211-8. Epub 2008 Jul 4.PMID: 18603565 [PubMed - indexed for MEDLINE]Related articlesFree article

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

Moore DF, Goldin E, Gelderman MP, Robinson C, Baer J, Ries M, Elkahloun A, Brady RO, Schiffmann R.

Acta Paediatr Suppl. 2008 Apr;97(457):48-52.PMID: 18339188 [PubMed - indexed for MEDLINE]Related articles

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ.

Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7. Epub 2008 Feb 19.PMID: 18287059 [PubMed - indexed for MEDLINE]Related articlesFree article

Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis.

Suzuki Y, Ichinomiya S, Kurosawa M, Ohkubo M, Watanabe H, Iwasaki H, Matsuda J, Noguchi Y, Takimoto K, Itoh M, Tabe M, Iida M, Kubo T, Ogawa S, Nanba E, Higaki K, Ohno K, Brady RO.

Ann Neurol. 2007 Dec;62(6):671-5.PMID: 17994547 [PubMed - indexed for MEDLINE]Related articles

Murine models of acute neuronopathic Gaucher disease.

Enquist IB, Lo Bianco C, Ooka A, Nilsson E, Månsson JE, Ehinger M, Richter J, Brady RO, Kirik D, Karlsson S.

Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17483-8. Epub 2007 Oct 22.PMID: 17954912 [PubMed - indexed for MEDLINE]Related articlesFree article

Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.

Noben-Trauth K, Neely H, Brady RO.

Hear Res. 2007 Dec;234(1-2):10-4. Epub 2007 Sep 14.PMID: 17933476 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.

Ries M, Clarke JT, Whybra C, Mehta A, Loveday KS, Brady RO, Beck M, Schiffmann R.

J Clin Pharmacol. 2007 Oct;47(10):1222-30. Epub 2007 Aug 13.PMID: 17698592 [PubMed - indexed for MEDLINE]Related articles

Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.

Shen JS, Meng XL, Schiffmann R, Brady RO, Kaneski CR.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):137-44. Epub 2007 Jul 17.PMID: 17644384 [PubMed - indexed for MEDLINE]Related articlesFree article

Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note.

Lonser RR, Warren KE, Butman JA, Quezado Z, Robison RA, Walbridge S, Schiffman R, Merrill M, Walker ML, Park DM, Croteau D, Brady RO, Oldfield EH.

J Neurosurg. 2007 Jul;107(1):190-7.PMID: 17639894 [PubMed - indexed for MEDLINE]Related articles

Screening for pharmacological chaperones in Fabry disease.

Shin SH, Murray GJ, Kluepfel-Stahl S, Cooney AM, Quirk JM, Schiffmann R, Brady RO, Kaneski CR.

Biochem Biophys Res Commun. 2007 Jul 20;359(1):168-73. Epub 2007 May 22.PMID: 17532296 [PubMed - indexed for MEDLINE]Related articlesFree article

Liposomal vaccines with conformation-specific amyloid peptide antigens define immune response and efficacy in APP transgenic mice.

Muhs A, Hickman DT, Pihlgren M, Chuard N, Giriens V, Meerschman C, van der Auwera I, van Leuven F, Sugawara M, Weingertner MC, Bechinger B, Greferath R, Kolonko N, Nagel-Steger L, Riesner D, Brady RO, Pfeifer A, Nicolau C.

Proc Natl Acad Sci U S A. 2007 Jun 5;104(23):9810-5. Epub 2007 May 21.PMID: 17517595 [PubMed - indexed for MEDLINE]Related articlesFree article

Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.

Moore DF, Gelderman MP, Ferreira PA, Fuhrmann SR, Yi H, Elkahloun A, Lix LM, Brady RO, Schiffmann R, Goldin E.

Proc Natl Acad Sci U S A. 2007 May 8;104(19):8065-70. Epub 2007 Apr 30.PMID: 17470787 [PubMed - indexed for MEDLINE]Related articlesFree article

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady RO, Ries M.

J Am Soc Nephrol. 2007 May;18(5):1576-83. Epub 2007 Apr 4.PMID: 17409308 [PubMed - indexed for MEDLINE]Related articlesFree article

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

Moore DF, Krokhin OV, Beavis RC, Ries M, Robinson C, Goldin E, Brady RO, Wilkins JA, Schiffmann R.

Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2873-8. Epub 2007 Feb 14.PMID: 17301227 [PubMed - indexed for MEDLINE]Related articlesFree article

Cyclin-dependent kinase 5 modulates nociceptive signaling through direct phosphorylation of transient receptor potential vanilloid 1.

Pareek TK, Keller J, Kesavapany S, Agarwal N, Kuner R, Pant HC, Iadarola MJ, Brady RO, Kulkarni AB.

Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):660-5. Epub 2006 Dec 28.PMID: 17194758 [PubMed - indexed for MEDLINE]Related articlesFree article

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.

Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, Dambrosia JM, Schiffmann R, Brewer CC.

Brain. 2007 Jan;130(Pt 1):143-50. Epub 2006 Nov 14.PMID: 17105746 [PubMed - indexed for MEDLINE]Related articlesFree article

Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.

Lonser RR, Schiffman R, Robison RA, Butman JA, Quezado Z, Walker ML, Morrison PF, Walbridge S, Murray GJ, Park DM, Brady RO, Oldfield EH.

Neurology. 2007 Jan 23;68(4):254-61. Epub 2006 Oct 25.PMID: 17065591 [PubMed - indexed for MEDLINE]Related articles

Effective cell and gene therapy in a murine model of Gaucher disease.

Enquist IB, Nilsson E, Ooka A, Månsson JE, Olsson K, Ehinger M, Brady RO, Richter J, Karlsson S.

Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13819-24. Epub 2006 Sep 5.PMID: 16954197 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, Pastores G, Lien YH, Kampmann C, Brady RO, Beck M, Schiffmann R.

Pediatrics. 2006 Sep;118(3):924-32.PMID: 16950982 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2006 Aug 24.PMID: 16929352 [PubMed - indexed for MEDLINE]Related articles

Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model.

Moore DF, Gelderman MP, Fuhrmann SR, Schiffmann R, Brady RO, Goldin E.

Acta Paediatr Suppl. 2006 Apr;95(451):69-71.PMID: 16720469 [PubMed - indexed for MEDLINE]Related articles

Emerging strategies for the treatment of hereditary metabolic storage disorders.

Brady RO.

Rejuvenation Res. 2006 Summer;9(2):237-44. Review.PMID: 16706651 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.

Schiffmann R, Hauer P, Freeman B, Ries M, Scott LJ, Polydefkis M, Brady RO, McArthur JC, Wagner K.

Muscle Nerve. 2006 Jul;34(1):53-6.PMID: 16583374 [PubMed - indexed for MEDLINE]Related articles

Quantitative dysmorphology assessment in Fabry disease.

Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D.

Genet Med. 2006 Feb;8(2):96-101.PMID: 16481892 [PubMed - indexed for MEDLINE]Related articles

A multifunctional cytoprotective agent that reduces neurodegeneration after ischemia.

Jiang ZG, Lu XC, Nelson V, Yang X, Pan W, Chen RW, Lebowitz MS, Almassian B, Tortella FC, Brady RO, Ghanbari HA.

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1581-6. Epub 2006 Jan 19.PMID: 16423893 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme replacement for lysosomal diseases.

Brady RO.

Annu Rev Med. 2006;57:283-96. Review.PMID: 16409150 [PubMed - indexed for MEDLINE]Related articles

Cyclin-dependent kinase 5 activity regulates pain signaling.

Pareek TK, Keller J, Kesavapany S, Pant HC, Iadarola MJ, Brady RO, Kulkarni AB.

Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):791-6. Epub 2006 Jan 9.PMID: 16407116 [PubMed - indexed for MEDLINE]Related articlesFree article

Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.

Lee KO, Luu N, Kaneski CR, Schiffmann R, Brady RO, Murray GJ.

Biochem Biophys Res Commun. 2005 Nov 18;337(2):701-7. Epub 2005 Sep 26.PMID: 16223608 [PubMed - indexed for MEDLINE]Related articles

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.

Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO.

Nephrol Dial Transplant. 2006 Feb;21(2):345-54. Epub 2005 Oct 4.PMID: 16204287 [PubMed - indexed for MEDLINE]Related articlesFree article

Lack 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.PMID: 16135910 [PubMed - indexed for MEDLINE]Related articles

Medical bioremediation: prospects for the application of microbial catabolic diversity to aging and several major age-related diseases.

de Grey AD, Alvarez PJ, Brady RO, Cuervo AM, Jerome WG, McCarty PL, Nixon RA, Rittmann BE, Sparrow JR.

Ageing Res Rev. 2005 Aug;4(3):315-38. Review.PMID: 16040282 [PubMed - indexed for MEDLINE]Related articles

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

Salvioli R, Tatti M, Scarpa S, Moavero SM, Ciaffoni F, Felicetti F, Kaneski CR, Brady RO, Vaccaro AM.

Biochem J. 2005 Aug 15;390(Pt 1):95-103.PMID: 15826241 [PubMed - indexed for MEDLINE]Related articlesFree article

Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease.

Lonser RR, Walbridge S, Murray GJ, Aizenberg MR, Vortmeyer AO, Aerts JM, Brady RO, Oldfield EH.

Ann Neurol. 2005 Apr;57(4):542-8.PMID: 15786474 [PubMed - indexed for MEDLINE]Related articles

Pediatric Fabry disease.

Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R.

Pediatrics. 2005 Mar;115(3):e344-55. Epub 2005 Feb 15.PMID: 15713906 [PubMed - indexed for MEDLINE]Related articlesFree article

Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector.

Kim EY, Hong YB, Lai Z, Cho YH, Brady RO, Jung SC.

J Gene Med. 2005 Jul;7(7):878-87.PMID: 15712335 [PubMed - indexed for MEDLINE]Related articles

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Schueler UH, Kolter T, Kaneski CR, Zirzow GC, Sandhoff K, Brady RO.

J Inherit Metab Dis. 2004;27(5):649-58.PMID: 15669681 [PubMed - indexed for MEDLINE]Related articles

Increased activity of cyclin-dependent kinase 5 leads to attenuation of cocaine-mediated dopamine signaling.

Takahashi S, Ohshima T, Cho A, Sreenath T, Iadarola MJ, Pant HC, Kim Y, Nairn AC, Brady RO, Greengard P, Kulkarni AB.

Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1737-42. Epub 2005 Jan 21.PMID: 15665076 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme-replacement therapy for metabolic storage disorders.

Brady RO, Schiffmann R.

Lancet Neurol. 2004 Dec;3(12):752-6. Review. Erratum in: Lancet Neurol. 2005 Jan;4(1):20. PMID: 15556808 [PubMed - indexed for MEDLINE]Related articles

Bioluminescent 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. Epub 2004 Nov 18.PMID: 15550536 [PubMed - indexed for MEDLINE]Related articlesFree article

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, Brady RO, Ellis JR, Schiffmann R.

Hum Mutat. 2004 Dec;24(6):460-5.PMID: 15523648 [PubMed - indexed for MEDLINE]Related articles

Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.

Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R.

J Magn Reson Imaging. 2004 Oct;20(4):674-83.PMID: 15390234 [PubMed - indexed for MEDLINE]Related articles

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease.

Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA 3rd, Brady RO, Schiffmann R.

Kidney Int. 2004 Sep;66(3):978-82.PMID: 15327390 [PubMed - indexed for MEDLINE]Related articles

Fabry disease in childhood.

Desnick RJ, Brady RO.

J Pediatr. 2004 May;144(5 Suppl):S20-6. Review. No abstract available. PMID: 15126980 [PubMed - indexed for MEDLINE]Related articles

Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.

Kim EY, Hong YB, Lai Z, Kim HJ, Cho YH, Brady RO, Jung SC.

Biochem Biophys Res Commun. 2004 May 28;318(2):381-90.PMID: 15120612 [PubMed - indexed for MEDLINE]Related articles

Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects.

Hirasawa M, Ohshima T, Takahashi S, Longenecker G, Honjo Y, Veeranna, Pant HC, Mikoshiba K, Brady RO, Kulkarni AB.

Proc Natl Acad Sci U S A. 2004 Apr 20;101(16):6249-54. Epub 2004 Apr 5.PMID: 15067135 [PubMed - indexed for MEDLINE]Related articlesFree article