Gregory A Grabowski

Gregory A Grabowski

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Gregory A Grabowski

Publications by authors named "Gregory A Grabowski"

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Response to "Letter to the Editor by Drs Block and Razani".

J Clin Lipidol 2016 Sep-Oct;10(5):1281-2. Epub 2016 Jul 25.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1016/j.jacl.2016.07.006DOI Listing
August 2018

An unexpected player in Gaucher disease: The multiple roles of complement in disease development.

Semin Immunol 2018 06 23;37:30-42. Epub 2018 Feb 23.

Division of Immunobiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; The Department of Pediatrics of the University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA; Institute for Systemic Inflammation Research, University of Lübeck, 23562, Lübeck, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10445323173010
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http://dx.doi.org/10.1016/j.smim.2018.02.006DOI Listing
June 2018

LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo.

Arterioscler Thromb Vasc Biol 2018 05 29;38(5):1191-1201. Epub 2018 Mar 29.

From the Department of Medicine, Centre for Heart Lung Innovation, Institute for Heart + Lung Health, Providence Health Care Research Institute at St. Paul's Hospital, University of British Columbia, Vancouver, Canada (K.L.B., J.A.D., T.C., G.A.F.)

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http://dx.doi.org/10.1161/ATVBAHA.117.310507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920716PMC
May 2018

Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties.

Am J Pathol 2018 02 14;188(2):525-538. Epub 2017 Nov 14.

Atherosclerosis Research Laboratory, Wihuri Research Institute, Helsinki, Finland; Helsinki University Lipidomics Unit, Department of Biosciences, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2017.09.019DOI Listing
February 2018

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease.

EBioMedicine 2018 Feb 31;28:251-260. Epub 2018 Jan 31.

Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003, USA; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2018.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835567PMC
February 2018

Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry.

SLAS Discov 2017 12 17;22(10):1218-1228. Epub 2017 Jul 17.

3 Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/2472555217719372DOI Listing
December 2017

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.

PLoS One 2016 6;11(9):e0162367. Epub 2016 Sep 6.

Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162367PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012639PMC
August 2017

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Mol Genet Metab 2017 Jan - Feb;120(1-2):1-7. Epub 2016 Nov 12.

Department of Human Genetics and Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.10.010DOI Listing
August 2017

Ten plus one challenges in diseases of the lysosomal system.

Mol Genet Metab 2017 Jan - Feb;120(1-2):38-46. Epub 2016 Nov 29.

Department of Pediatrics, University of Minnesota, School of Medicine, Minneapolis, MN, United States; Department of Experimental and Clinical Pharmacology, University of Minnesota, School of Medicine, Minneapolis, MN, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.11.388DOI Listing
August 2017

Overview of Inflammation in Neurometabolic Diseases.

Semin Pediatr Neurol 2017 08 14;24(3):207-213. Epub 2017 Aug 14.

The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Kiniksa Pharmaceuticals Ltd., Wellesley, MA. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.005DOI Listing
August 2017

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.

Nature 2017 03 22;543(7643):108-112. Epub 2017 Feb 22.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1038/nature21368DOI Listing
March 2017

Association Between Progranulin and Gaucher Disease.

EBioMedicine 2016 Sep 4;11:127-137. Epub 2016 Aug 4.

Department of Orthopaedic Surgery, New York University School of Medicine, New York, NY 10003, United States; Department of Cell Biology, New York University School of Medicine, New York, NY 10016, United States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049935PMC
http://dx.doi.org/10.1016/j.ebiom.2016.08.004DOI Listing
September 2016

Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease.

PLoS One 2015 27;10(8):e0136633. Epub 2015 Aug 27.

Stony Brook Cancer Center, Stony Brook University, Stony Brook, New York, United States of America; Department of Medicine, Stony Brook University, Stony Brook, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136633PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552301PMC
May 2016

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.

PLoS One 2015 30;10(3):e0118771. Epub 2015 Mar 30.

Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America; Synageva BioPharma Corp., Lexington, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0118771PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378893PMC
February 2016

Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.

Hum Mol Genet 2015 Dec 29;24(24):7031-48. Epub 2015 Sep 29.

Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229, USA, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA

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http://dx.doi.org/10.1093/hmg/ddv404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654057PMC
December 2015

Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.

PLoS One 2014 31;9(12):e116023. Epub 2014 Dec 31.

The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America; The Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116023PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281226PMC
October 2015

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.

Am J Hematol 2015 Jul;90 Suppl 1:S12-8

Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajh.24063DOI Listing
July 2015

Afterword.

Am J Hematol 2015 Jul;90 Suppl 1:S29

Division of Genetics, Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajh.24058DOI Listing
July 2015

JCL Roundtable: enzyme replacement therapy for lipid storage disorders.

J Clin Lipidol 2014 Sep-Oct;8(5):463-72. Epub 2014 Jul 15.

Synageva BioPharma Corp., 33 Hayden Ave., Lexington, MA 02421, USA.

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http://dx.doi.org/10.1016/j.jacl.2014.07.006DOI Listing
February 2015

Membrane anchors effectively traffic recombinant human glucocerebrosidase to the protein storage vacuole of Arabidopsis seeds but do not adequately control N-glycan maturation.

Plant Cell Rep 2014 Dec 4;33(12):2023-32. Epub 2014 Sep 4.

Department of Biological Sciences, Simon Fraser University, 8888 University Dr., Burnaby, BC, V5A 1S6, Canada.

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http://dx.doi.org/10.1007/s00299-014-1677-5DOI Listing
December 2014

The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.

J Biol Chem 2014 Oct 8;289(43):30063-74. Epub 2014 Sep 8.

From the Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 and

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http://dx.doi.org/10.1074/jbc.M114.593616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208013PMC
October 2014

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

Hum Mol Genet 2014 Aug 5;23(15):3943-57. Epub 2014 Mar 5.

The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA Synageva BioPharma, Lexington, MA 02421, USA

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http://dx.doi.org/10.1093/hmg/ddu105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082362PMC
August 2014

Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.

Mol Genet Metab 2014 Jul 4;112(3):229-41. Epub 2014 May 4.

The Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, USA; The Department of Pediatrics, University of Cincinnati College of Medicine Cincinnati, OH 45229, USA; Synageva BioPharma Corp., Lexington, MA 02421, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.04.006DOI Listing
July 2014

Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014.

Am J Hematol 2014 May 7;89(5):457-8. Epub 2014 Mar 7.

Lysosomal Storage Disease Clinical Care Network, Pittsburgh, PA.

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http://dx.doi.org/10.1002/ajh.23687DOI Listing
May 2014

Taliglucerase alfa: an enzyme replacement therapy using plant cell expression technology.

Mol Genet Metab 2014 May 2;112(1):1-8. Epub 2014 Mar 2.

Protalix Biotherapeutics, Carmiel, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2014.02.011DOI Listing
May 2014

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Dev Disabil Res Rev 2013 ;17(3):226-46

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Ohio, USA.

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http://dx.doi.org/10.1002/ddrr.1116DOI Listing
March 2014

Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.

J Lipid Res 2014 Mar 30;55(3):493-503. Epub 2013 Nov 30.

Lipid Metabolism Unit and Center for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114.

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http://dx.doi.org/10.1194/jlr.M044941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934733PMC
March 2014

Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model.

Mol Genet Metab 2014 Feb 10;111(2):163-71. Epub 2013 Sep 10.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130031
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http://dx.doi.org/10.1016/j.ymgme.2013.09.002DOI Listing
February 2014

Immunological cells and functions in Gaucher disease.

Crit Rev Oncog 2013 ;18(3):197-220

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio 45229, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3661296PMC
July 2013

Altered autophagy in the mice with a deficiency of saposin A and saposin B.

Autophagy 2013 Jul 6;9(7):1115-6. Epub 2013 May 6.

Division of Human Genetics; Cincinnati Children's Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine; Cincinnati, OH USA.

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http://dx.doi.org/10.4161/auto.24919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722325PMC
July 2013

Gaucher disease and other storage disorders.

Hematology Am Soc Hematol Educ Program 2012 ;2012:13-8

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1182/asheducation-2012.1.13DOI Listing
June 2013

Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.

Mol Genet Metab 2012 Jul 30;106(3):310-22. Epub 2012 Apr 30.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229‐3039, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3382074PMC
July 2012

Saposins utilize two strategies for lipid transfer and CD1 antigen presentation.

Proc Natl Acad Sci U S A 2012 Mar 13;109(12):4357-64. Epub 2012 Feb 13.

Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.1200764109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3311357PMC
March 2012

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.

J Biol Chem 2012 Feb 13;287(6):4275-87. Epub 2011 Dec 13.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1074/jbc.M111.280016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281716PMC
February 2012

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Cell 2011 Jul 23;146(1):37-52. Epub 2011 Jun 23.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MassGeneral Institute for Neurodegenerative Disease, Charlestown, MA 02129, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286741100601
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http://dx.doi.org/10.1016/j.cell.2011.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132082PMC
July 2011

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

PLoS One 2011 Apr 20;6(4):e19037. Epub 2011 Apr 20.

The Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0019037PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080394PMC
April 2011

Velaglucerase alfa in the treatment of Gaucher disease type 1.

Clin Investig (Lond) 2011 Feb;1(2):285-293

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-43039, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172711PMC
February 2011

Global gene expression profile progression in Gaucher disease mouse models.

BMC Genomics 2011 Jan 11;12:20. Epub 2011 Jan 11.

The Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1186/1471-2164-12-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032697PMC
January 2011

Multi-system disorders of glycosphingolipid and ganglioside metabolism.

J Lipid Res 2010 Jul 8;51(7):1643-75. Epub 2010 Mar 8.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1194/jlr.R003996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882741PMC
July 2010

Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease.

Autophagy 2010 Jul 1;6(5):648-9. Epub 2010 Jul 1.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.4161/auto.6.5.12047DOI Listing
July 2010

The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin.

J Cell Biol 2010 May 24;189(5):829-41. Epub 2010 May 24.

Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.

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http://dx.doi.org/10.1083/jcb.200912105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878942PMC
May 2010

Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.

PLoS One 2010 May 20;5(5):e10750. Epub 2010 May 20.

Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0010750PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873993PMC
May 2010

Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.

Hum Mol Genet 2010 Feb 16;19(4):634-47. Epub 2009 Dec 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddp531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807372PMC
February 2010

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

Biochim Biophys Acta 2009 Dec 20;1791(12):1155-65. Epub 2009 Aug 20.

Department of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S138819810900174
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http://dx.doi.org/10.1016/j.bbalip.2009.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783675PMC
December 2009

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

Blood 2009 Oct 8;114(15):3181-90. Epub 2009 Jul 8.

Montreal Centre for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, QC, Canada.

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http://dx.doi.org/10.1182/blood-2009-02-205708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925728PMC
October 2009

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

Mol Genet Metab 2009 May 13;97(1):65-74. Epub 2009 Feb 13.

The A. Graeme Mitchell Chair in Human Genetics, Division and Program in Human Genetics, Children's Hospital Medical Center, 3333 Burnet Avenue, ML 4006, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699545PMC
May 2009

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

J Biol Chem 2009 May 11;284(19):12979-88. Epub 2009 Mar 11.

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425, USA.

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http://dx.doi.org/10.1074/jbc.M809500200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676030PMC
May 2009

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

J Biol Chem 2009 May 11;284(19):12972-8. Epub 2009 Mar 11.

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425, USA.

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http://dx.doi.org/10.1074/jbc.M802790200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676029PMC
May 2009

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

BMC Med Genet 2008 Oct 23;9:93. Epub 2008 Oct 23.

Department of Epidemiology, School of Public Health, University of Michigan, 109 Observatory St,, Ann Arbor, MI 48109-2029, USA.

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http://dx.doi.org/10.1186/1471-2350-9-93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588439PMC
October 2008

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

Lancet 2008 Oct;372(9645):1263-71

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/S0140-6736(08)61522-6DOI Listing
October 2008

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

J Lipid Res 2008 Aug 15;49(8):1646-57. Epub 2008 Apr 15.

Division and Program in Human Genetics, Cincinnati Children's Hospital Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1194/jlr.M700482-JLR200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2444013PMC
August 2008

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

Hum Mol Genet 2008 Aug 14;17(15):2345-56. Epub 2008 May 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1093/hmg/ddn135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2465797PMC
August 2008

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

Mol Genet Metab 2008 Jun 17;94(2):190-203. Epub 2008 Mar 17.

The Divisions of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577881PMC
June 2008

Treatment perspectives for the lysosomal storage diseases.

Expert Opin Emerg Drugs 2008 Mar;13(1):197-211

University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, The Division of Human Genetics, Department of Pediatrics, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1517/14728214.13.1.197 DOI Listing
March 2008

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

J Lipid Res 2007 Dec 25;48(12):2571-8. Epub 2007 Aug 25.

Department of Cardiovascular Biology, Meharry Medical College, Nashville, TN 37208, USA.

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http://dx.doi.org/10.1194/jlr.M700217-JLR200DOI Listing
December 2007

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Curr Opin Pediatr 2007 Dec;19(6):628-35

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229-3039, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2007/12000/Enzyme
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http://dx.doi.org/10.1097/MOP.0b013e3282f161f2DOI Listing
December 2007

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

Hum Mol Genet 2007 Apr 12;16(8):957-71. Epub 2007 Mar 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1093/hmg/ddm040DOI Listing
April 2007

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

J Pediatr 2007 Feb;150(2):202-6

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1016/j.jpeds.2006.10.062DOI Listing
February 2007

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

Expert Opin Drug Deliv 2006 Nov;3(6):771-82

The Division and Programme in Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1517/17425247.3.6.771 DOI Listing
November 2006

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

J Lipid Res 2006 Oct 21;47(10):2161-70. Epub 2006 Jul 21.

Division of Human Genetics, Children's Hospital Research Foundation and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1194/jlr.M600239-JLR200DOI Listing
October 2006

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

J Biol Chem 2006 Feb 17;281(7):4242-53. Epub 2005 Nov 17.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1074/jbc.M511110200DOI Listing
February 2006

Characterization of neuronopathic Gaucher disease among ethnic Poles.

Genet Med 2006 Jan;8(1):8-15

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.109701.gim.0000196443.42899.25DOI Listing
January 2006

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

Am J Hum Genet 2005 Dec 27;77(6):1061-74. Epub 2005 Oct 27.

Division and Program in Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1086/498652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1285163PMC
December 2005

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

Am J Hematol 2005 Nov;80(3):223-9

University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida.

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http://dx.doi.org/10.1002/ajh.20504DOI Listing
November 2005

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

J Lipid Res 2005 Oct 1;46(10):2102-13. Epub 2005 Aug 1.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1194/jlr.M500202-JLR200DOI Listing
October 2005

Recent clinical progress in Gaucher disease.

Curr Opin Pediatr 2005 Aug;17(4):519-24

The Children's Hospital Research Foundation, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics of the University of Cincinnati, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1097/01.mop.0000172702.33128.19DOI Listing
August 2005

Saposin C: neuronal effect and CNS delivery by liposomes.

Ann N Y Acad Sci 2005 Aug;1053:237-46

Division and Program in Human Genetics, Children's Hospital Research Foundation, University of Cincinnati, Ohio 45229-3039, USA.

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http://doi.wiley.com/10.1196/annals.1344.021
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http://dx.doi.org/10.1196/annals.1344.021DOI Listing
August 2005

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

Mol Genet Metab 2005 Mar 29;84(3):252-64. Epub 2004 Dec 29.

Division of Human Genetics, The Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.10.005DOI Listing
March 2005

Lysosomal acid lipase and atherosclerosis.

Curr Opin Lipidol 2004 Oct;15(5):539-44

The Children's Hospital Research Foundation of Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45229-3039, USA.

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October 2004

Therapeutic goals in the treatment of Gaucher disease.

Semin Hematol 2004 Oct;41(4 Suppl 5):4-14

Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA.

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October 2004

Vitreous opacities and retinal vascular abnormalities in Gaucher disease.

Arch Ophthalmol 2004 Sep;122(9):1395-8

Department of Ophthalmology and Visual Sciences, University of Louisville School of Medicine, 301 E. Muhammad Ali Boulevard, Louisville, KY 40202, USA.

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http://dx.doi.org/10.1001/archopht.122.9.1395DOI Listing
September 2004

Gaucher disease: lessons from a decade of therapy.

J Pediatr 2004 May;144(5 Suppl):S15-9

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.01.050DOI Listing
May 2004