PubMed

In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.

Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA.

PLoS One. 2009 Oct 7;4(10):e7320.PMID: 19809509 [PubMed - in process]Related articlesFree article

Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors.

Rosenbaum AI, Rujoi M, Huang AY, Du H, Grabowski GA, Maxfield FR.

Biochim Biophys Acta. 2009 Dec;1791(12):1155-65. Epub 2009 Aug 20.PMID: 19699313 [PubMed - in process]Related articles

Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.

Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J.

Blood. 2009 Oct 8;114(15):3181-90. Epub 2009 Jul 8.PMID: 19587377 [PubMed - indexed for MEDLINE]Related articles

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

Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation.

Kitatani K, Sheldon K, Rajagopalan V, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA.

J Biol Chem. 2009 May 8;284(19):12972-8. Epub 2009 Mar 11.PMID: 19279011 [PubMed - indexed for MEDLINE]Related articles

Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid.

Kitatani K, Sheldon K, Anelli V, Jenkins RW, Sun Y, Grabowski GA, Obeid LM, Hannun YA.

J Biol Chem. 2009 May 8;284(19):12979-88. Epub 2009 Mar 11.PMID: 19279008 [PubMed - indexed for MEDLINE]Related articles

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S.

Genet Med. 2009 Feb;11(2):92-100.PMID: 19265748 [PubMed - indexed for MEDLINE]Related articles

Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease.

Liou B, Grabowski GA.

Mol Genet Metab. 2009 May;97(1):65-74. Epub 2009 Feb 13.PMID: 19217815 [PubMed - indexed for MEDLINE]Related articles

Phenotype, diagnosis, and treatment of Gaucher's disease.

Grabowski GA.

Lancet. 2008 Oct 4;372(9645):1263-71.PMID: 19094956 [PubMed - indexed for MEDLINE]Related articles

Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.

Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR.

Mol Genet Metab. 2009 Feb;96(2):S3-5. Epub 2008 Dec 10. No abstract available. PMID: 19083251 [PubMed - indexed for MEDLINE]Related articles

Multiple interactions between the alpha 2C- and beta1-adrenergic receptors influence heart failure survival.

Kardia SL, Kelly RJ, Keddache MA, Aronow BJ, Grabowski GA, Hahn HS, Case KL, Wagoner LE, Dorn GW 2nd, Liggett SB.

BMC Med Genet. 2008 Oct 23;9:93.PMID: 18947427 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA.

Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.PMID: 18792986 [PubMed - indexed for MEDLINE]Related articles

Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice.

Sun Y, Jia L, Williams MT, Zamzow M, Ran H, Quinn B, Aronow BJ, Vorhees CV, Witte DP, Grabowski GA.

BMC Neurosci. 2008 Aug 1;9:76.PMID: 18673548 [PubMed - indexed for MEDLINE]Related articlesFree article

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, Weinreb N.

J Inherit Metab Dis. 2008 Jun;31(3):319-36. Epub 2008 May 23. Review.PMID: 18509745 [PubMed - indexed for MEDLINE]Related articles

Prosaposin is an AR-target gene and its neurotrophic domain upregulates AR expression and activity in prostate stromal cells.

Koochekpour S, Lee TJ, Sun Y, Hu S, Grabowski GA, Liu Z, Garay J.

J Cell Biochem. 2008 Aug 15;104(6):2272-85.PMID: 18481277 [PubMed - indexed for MEDLINE]Related articles

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

Sun Y, Witte DP, Ran H, Zamzow M, Barnes S, Cheng H, Han X, Williams MT, Skelton MR, Vorhees CV, Grabowski GA.

Hum Mol Genet. 2008 Aug 1;17(15):2345-56. Epub 2008 May 14.PMID: 18480170 [PubMed - indexed for MEDLINE]Related articlesFree article

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.

Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA.

J Lipid Res. 2008 Aug;49(8):1646-57. Epub 2008 Apr 15.PMID: 18413899 [PubMed - indexed for MEDLINE]Related articlesFree article

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.

Xu YH, Reboulet R, Quinn B, Huelsken J, Witte D, Grabowski GA.

Mol Genet Metab. 2008 Jun;94(2):190-203. Epub 2008 Mar 17.PMID: 18346921 [PubMed - indexed for MEDLINE]Related articlesFree article

Treatment perspectives for the lysosomal storage diseases.

Grabowski GA.

Expert Opin Emerg Drugs. 2008 Mar;13(1):197-211. Review.PMID: 18321157 [PubMed - indexed for MEDLINE]Related articles

Prevalence of type 1 Gaucher disease in the United States.

Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A.

Arch Intern Med. 2008 Feb 11;168(3):326-7; author reply 327-8. No abstract available. PMID: 18268176 [PubMed - indexed for MEDLINE]Related articles

Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease.

Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee J, Steinbach L.

Skeletal Radiol. 2008 Mar;37(3):185-8. No abstract available. PMID: 18094966 [PubMed - indexed for MEDLINE]Related articlesFree article

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA.

Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.PMID: 18025928 [PubMed - indexed for MEDLINE]Related articles

Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages.

Wu D, Sharan C, Yang H, Goodwin JS, Zhou L, Grabowski GA, Du H, Guo Z.

J Lipid Res. 2007 Dec;48(12):2571-8. Epub 2007 Aug 25.PMID: 17720994 [PubMed - indexed for MEDLINE]Related articlesFree article

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.

McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, Shayman JA, Grabowski GA, Aerts JM, Cheng SH, Copeland DP, Marshall J.

Mol Genet Metab. 2007 Jul;91(3):259-67. Epub 2007 May 16.PMID: 17509920 [PubMed - indexed for MEDLINE]Related articles

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.

Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA.

Hum Mol Genet. 2007 Apr 15;16(8):957-71. Epub 2007 Mar 12.PMID: 17353235 [PubMed - indexed for MEDLINE]Related articlesFree article

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

Charrow J, Dulisse B, Grabowski GA, Weinreb NJ.

Clin Genet. 2007 Mar;71(3):205-11.PMID: 17309642 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy.

Burrow TA, Cohen MB, Bokulic R, Deutsch G, Choudhary A, Falcone RA Jr, Grabowski GA.

J Pediatr. 2007 Feb;150(2):202-6.PMID: 17236903 [PubMed - indexed for MEDLINE]Related articles

Prosaposin is a novel androgen-regulated gene in prostate cancer cell line LNCaP.

Koochekpour S, Lee TJ, Wang R, Sun Y, Delorme N, Hiraiwa M, Grabowski GA, Culig Z, Minokadeh A.

J Cell Biochem. 2007 Jun 1;101(3):631-41.PMID: 17171640 [PubMed - indexed for MEDLINE]Related articles

Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.

Grabowski GA.

Expert Opin Drug Deliv. 2006 Nov;3(6):771-82. Review.PMID: 17076599 [PubMed - indexed for MEDLINE]Related articles

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.

Sobreira E, Pires RF, Cizmarik M, Grabowski GA.

Mol Genet Metab. 2007 Jan;90(1):81-6. Epub 2006 Sep 25.PMID: 16996765 [PubMed - indexed for MEDLINE]Related articles

Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.

Sun Y, Quinn B, Xu YH, Leonova T, Witte DP, Grabowski GA.

J Lipid Res. 2006 Oct;47(10):2161-70. Epub 2006 Jul 21.PMID: 16861620 [PubMed - indexed for MEDLINE]Related articlesFree article

AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.

McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, Grabowski GA, Cheng SH, Marshall J.

J Gene Med. 2006 Jun;8(6):719-29.PMID: 16528760 [PubMed - indexed for MEDLINE]Related articles

Characterization of neuronopathic Gaucher disease among ethnic Poles.

Tylki-Szymañska A, Keddache M, Grabowski GA.

Genet Med. 2006 Jan;8(1):8-15.PMID: 16418594 [PubMed - indexed for MEDLINE]Related articles

The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.

Du H, Levine M, Ganesa C, Witte DP, Cole ES, Grabowski GA.

Am J Hum Genet. 2005 Dec;77(6):1061-74. Epub 2005 Oct 27.PMID: 16380916 [PubMed - indexed for MEDLINE]Related articlesFree article

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA.

J Biol Chem. 2006 Feb 17;281(7):4242-53. Epub 2005 Nov 17.PMID: 16293621 [PubMed - indexed for MEDLINE]Related articlesFree article

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.

Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P.

Am J Hematol. 2005 Nov;80(3):223-9. Review.PMID: 16247743 [PubMed - indexed for MEDLINE]Related articles

Saposin C: neuronal effect and CNS delivery by liposomes.

Chu Z, Sun Y, Kuan CY, Grabowski GA, Qi X.

Ann N Y Acad Sci. 2005 Aug;1053:237-46.PMID: 16179529 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.

Sun Y, Quinn B, Witte DP, Grabowski GA.

J Lipid Res. 2005 Oct;46(10):2102-13. Epub 2005 Aug 1.PMID: 16061944 [PubMed - indexed for MEDLINE]Related articlesFree article

Recent clinical progress in Gaucher disease.

Grabowski GA.

Curr Opin Pediatr. 2005 Aug;17(4):519-24. Review.PMID: 16012266 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

Tang NL, Zhang W, Grabowski GA, To KF, Choy FY, Ma SL, Shi HP.

Hum Mutat. 2005 Jul;26(1):59-60.PMID: 15954102 [PubMed - indexed for MEDLINE]Related articles

Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway.

Xu YH, Grabowski GA.

Mol Genet Metab. 2005 Mar;84(3):252-64. Epub 2004 Dec 29.PMID: 15694175 [PubMed - indexed for MEDLINE]Related articles

Therapeutic goals in the treatment of Gaucher disease.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A.

Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14. Review.PMID: 15468045 [PubMed - indexed for MEDLINE]Related articles

Vitreous opacities and retinal vascular abnormalities in Gaucher disease.

Shrier EM, Barr CC, Grabowski GA.

Arch Ophthalmol. 2004 Sep;122(9):1395-8. No abstract available. PMID: 15364726 [PubMed - indexed for MEDLINE]Related articles

Lysosomal acid lipase and atherosclerosis.

Du H, Grabowski GA.

Curr Opin Lipidol. 2004 Oct;15(5):539-44. Review.PMID: 15361789 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease: lessons from a decade of therapy.

Grabowski GA.

J Pediatr. 2004 May;144(5 Suppl):S15-9. No abstract available. PMID: 15126979 [PubMed - indexed for MEDLINE]Related articles

Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.

Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, Sun S.

Blood. 2004 Sep 1;104(5):1253-7. Epub 2004 Mar 9.PMID: 15010365 [PubMed - indexed for MEDLINE]Related articlesFree article

Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins.

Zhou D, Cantu C 3rd, Sagiv Y, Schrantz N, Kulkarni AB, Qi X, Mahuran DJ, Morales CR, Grabowski GA, Benlagha K, Savage P, Bendelac A, Teyton L.

Science. 2004 Jan 23;303(5657):523-7. Epub 2003 Dec 18.PMID: 14684827 [PubMed - indexed for MEDLINE]Related articlesFree article

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel E, Vellodi A.

Eur J Pediatr. 2004 Feb;163(2):67-75. Epub 2003 Dec 16. Review.PMID: 14677062 [PubMed - indexed for MEDLINE]Related articles

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A.

Eur J Pediatr. 2004 Feb;163(2):58-66. Epub 2003 Dec 16. Review.PMID: 14677061 [PubMed - indexed for MEDLINE]Related articles

Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins.

Xu YH, Leonova T, Grabowski GA.

Mol Genet Metab. 2003 Dec;80(4):426-36.PMID: 14654356 [PubMed - indexed for MEDLINE]Related articles