Edward A. Doisy Department of
Biochemistry and Molecular Biology

Secondary Faculty

Education
M.D., 1984, Saint Louis University School of Medicine
Research Interests
Board certified in pediatrics and neonatal-perinatal medicine with a clinical specialty in iron homeostasis.
Recent Publications
  • Increased hepcidin in transferrin-treated thalassemic mice correlates with increased liver BMP2 expression and decreased hepatocyte ERK activation.
    Chen H, Choosing T, et al. Haematologica. (2016) 101(3):297-308.
  • Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis.
    Lee SM, Loguinov A, et al. Genes Nutr. (2015) 10(1):443.
Education
Ph.D., 1990, Lomonosov Moscow State University
Research Interests
We are interested in the universal mechanism of transmembrane signal transduction mediated by heterotrimeric G-proteins, which are responsible for the transmission of information about extracellular messengers such as hormones, neurotransmitters and sensory stimuli, including visual signals.

Our laboratory is working on questions of the molecular organization of the receptor-G-protein complex, the high-resolution picture of the receptor-G-protein interface, the mechanism of signal transfer from the receptor, and the roles of individual G-protein subunits, especially the G-protein beta-gamma subunit complex, in this dynamic process.

The phototransduction cascade in highly specialized sensory neurons, retinal photoreceptor cells, is the prototypical G-protein-mediated system. As alterations of function of this system due to mutations, age-related processes or drug interactions may lead to severe visual disorders, one of our goals is the dissection of the phototransduction mechanism for clinical and therapeutic applications.
Recent Publications
Education
Ph.D., 2001, Gifu University School of Medicine
Research Interests
We are working on developing a registry and growth charts for patients with MPS IVA and are in pre-clinical trials for enzyme replacement therapy for patients affected by MPS IVA. We are also developing a bone targeting system for treatment of MPS disorders, substrate reudction therapy for MPSs, and gene therapy for MPS IVA. Other areas of interest are characterization of hyaluronidases, the molecular evolution of glycosaminoglycans and peptidoglycan receptor proteins, and chondroitin sulfate metabolism.
Recent Publications
  • Clinical course of sly syndrome.
    Montano AM, Lock-Hock N, et al. J Med Genet. (2016) Feb 23 [Epub ahead of print].
  • Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
    Tomatsu S, Sawamoto K, et al. Drugs Des Devel Ther. (2015) 9:1937-1953.
  • Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB.
    Shimada T, Tomatsu S, et al. JIMD Rep. (2015) 21:1-13.
  • Therapies for the bone in mucopolysaccharidoses.
    Tomatsu S, Almeciga-Diaz CJ, et al. Mol Genet Metab. (2015) 114(2):94-109.
  • Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation.
    Tanjuakio J, Suzuki Y, et al. Mol Genet Metab. (2015) 114(2):161-169.
Education
M.D.C.M., 1984, McGill University Faculty of Medicine
Research Interests
Our lab focuses on understanding the molecular genetic basis of mammalian kidney development and on how disruption of specific pathways leads to abnormal development of this vital organ. We use the mouse as our model system.
Recent Publications
  • Notch-Tnf signaling is required for development and homeostasis of arterial valves.
    Wang y, Wu B, et al. Eur Heart J. (2015) Oct 21 [Epub ahead of print].
  • A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
    Hursch S, El-Achkar T, et al. Am J Physiol Renal Physiol. (2015) 309(10):F852-863.
  • Acute kidney injury after cardiac surgery: Is minocycline protective?.
    Golestaneh L, Lindsey K, et al. J Nephrol. (2015) 28(2):193-199.
  • The nucleosome remodeling and deacetylase complex in development and disease.
    Basta J and Rauchman M. Transl Res. (2015) 165(1):36-47.
Education
M.D., 1989, Washington University School of Medicine
Research Interests
Clinical specialty in the areas of pediatric liver disease and general gastroenterology.
Recent Publications