Professor, Pediatrics, University of Cincinnati College of Medicine
Medical Genetics
Dr. Gregory A. Grabowski, MD
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Doctor Gregory A. Grabowski, MD is an expert in the field of Medical Genetics. He researched medicine at University of Minnesota Medical School. University of Minnesota Medical School is ranked 40 in research and 10 in primary care medicine He over the years received 1 awards: "Elected Member". Gregory A. Grabowski is also published. He has 82 publications published. The lastest publication: "Role of saposin C and D in auditory and vestibular function.' Gregory A. Grabowski accepts Medicare payments and is registered with Medicare.gov.
Publications
- Role of saposin C and D in auditory and vestibular function.
- Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice.
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
- An in vivo model of human small intestine using pluripotent stem cells.
- CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings.
- Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease.
- Endogenous β-glucocerebrosidase activity in Abca12-/-epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.
- Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK.
- A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerabi...
- Orthopaedic fellowship selection criteria: a survey of fellowship directors.
- Gaucher disease: Chemotactic factors and immunological cell invasion in a mouse model.
- Therapy for lysosomal acid lipase deficiency: Replacing a missing link.
- Neuronopathic lysosomal storage diseases: clinical and pathologic findings.
- Altered autophagy in the mice with a deficiency of saposin A and saposin B.
- Substrate compositional variation with tissue/region and gba1 mutations in mouse models-implications for Gaucher disease.
- Immunological cells and functions in Gaucher disease.
- Bone graft and bone graft substitutes in spine surgery: current concepts and controversies.
- Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
- Gaucher disease: Ex vivo and in vivo effects of isofagomine on acid ?-glucosidase variants and substrate levels.
- Is E326K glucocerebrosidase a polymorphic or pathological variant?
- Production of Active Human Glucocerebrosidase in Seeds of Arabidopsis thaliana Complex-Glycan-Deficient (cgl) Plants.
- Gaucher Disease Glucocerebrosidase and ?-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies.
- CNS expression of glucocerebrosidase corrects {alpha}-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.
- Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing.
- Velaglucerase alfa in the treatment of Gaucher disease type 1.
- Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.
- Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease.
- Multi-system disorders of glycosphingolipid and ganglioside metabolism.
- The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin.
- A validated disease severity scoring system for adults with type 1 Gaucher disease.
- Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
- Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.
- Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation.
- Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid.
- Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease.
- Gaucher disease: resetting the clinical and scientific agenda.
- Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.
- Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.
- In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
- Phenotype, diagnosis, and treatment of Gaucher's disease.
- Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
- Prevalence of type 1 Gaucher disease in the United States.
- Enzyme reconstitution/replacement therapy for lysosomal storage diseases.
- Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages.
- A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.
- Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy.
- Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
- Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.
- Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
- Characterization of neuronopathic Gaucher disease among ethnic Poles.
- The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy.
- Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.
- Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
- Saposin C: neuronal effect and CNS delivery by liposomes.
- Recent clinical progress in Gaucher disease.
- Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway.
- Therapeutic goals in the treatment of Gaucher disease.
- Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.
- Vitreous opacities and retinal vascular abnormalities in Gaucher disease.
- Gaucher disease: lessons from a decade of therapy.
- Editing of CD1d-bound lipid antigens by endosomal lipid transfer proteins.
- Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation.
- Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins.
- Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
- Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation.
- Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions.
- Perspectives on gene therapy for lysosomal storage diseases that affect hematopoiesis.
- Phospholipid vesicle fusion induced by saposin C.
- Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
- Phospholipid membrane interactions of saposin C: in situ atomic force microscopic study.
- Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.
- Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies.
- Enzyme therapy for lysosomal storage disease: principles, practice, and prospects.
- Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice.
- Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.
- Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase.
- The analytical landscape of static and temporal dynamics in transcriptome data.
- Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase.
- Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology.
- Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.
Schools
University Of Minnesota Medical School
University Of Minnesota
University Minn Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Elected Member
Education
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University of Minnesota -
University of Minnesota Medical School
Hospital
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Cincinnati Children's Hospital Medical Center
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