Saint Louis University

Education

M.D., 1957, Saint Louis University

Research Interests

Areas of research include: (i) experimental approaches to treatment of murine beta-glucuronidase deficiency mucopolysaccharidosis (Sly syndrome), (ii) biochemical and molecular genetics of human deficiencies of beta-glucuronidase and carbonic anhydrases, and (iii) developing transgenic mice and mouse models of human disease by targeted mutagenesis.

Recent Publications

• Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.
  Shah GN, Rubbelke TS, et al. Proc Natl Acad Sci USA. (2013) 110(18):7423-8.
  
• GPI-anchored carbonic anhydrase IV displays both intra-and extracellular activity in cRNA-injected oocytes and in mouse neurons.
  Schneider HP, Alt MD, et al. Proc Natl Acad Sci USA. (2013) 110(4):1494-9.
  
• NMDA receptor-dependent afterdepolarizations are curtailed by carbonic anhdrase 14: Regulation of a short-erm postsynaptic potentiation.
  Makani S, Chen HY, et al. J Neurosci. (2012) 32(47):16754-62.
  
• Carbonic anhydrase IX in malignant pleural mesotheliomas: A potential target for anti-cancer therapy.
  Kivela AJ, Knuuttila A, et al. Bioorg Med Chem. (2012) 21(6):1483-8.
  
• Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.
  Huynh HT, Grubb JH, et al. Proc Natl Acad Sci USA. (2012) 109(42):17022-7.
  
• Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.
  Rowan DJ, Tomatsu S, et al. J Inherit Metab Dis. (2012) 36(2):235-46.
  
• Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.
  Rowan DJ, Tomatsu S, et al. Mol Genet Metab. (2012) 107(1-2):161-72.
  
• Effect of sulfonamides as carbonic anhydrase VA and VB inhibitors on mitochondrial metabolic energy conversion.
  Arechederra RL, Waheed A, et al. Bioorg Med Chem. (2012) 21(6):1544-8.
  
• Structure, function and applications of carbonic anhydrase isozymes.
  Imtaiyaz Hassan M, Shajee B, et al. Bioorg Med Chem. (2012) Apr 27 [Epub ahead of print].
  
• Carbonic anhydrase IX promotes tumor growth and necrosis in vivo and inhibition enhances anti-VEGF therapy.
  McIntyre A, Patiar S, et al. Clin Cancer Res. (2012) 18(11):3100-11.
  
• Carbonic anydrase isozymes II, IX, and IXX in uterine tumors.
  Hynninen P, Parkkila S, et al. APMIS. (2012) 120(2):117-29.