Edward A. Doisy Department of
Biochemistry and Molecular Biology

Secondary Faculty

Education
Ph.D., 1974, University of Rochester School of Medicine and Dentistry
Research Interests
Age-related bone loss is a major health problem in both men and women. The main focus of our research has been to determine how calcium homeostasis changes with age and how this contributes to age-related bone loss. We have used the F344 rat as an animal model in which to study changes in calcium homeostasis with age. The F344 rat shows changes in calcium homeostasis which are similar to those seen in humans.
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
  • Bone morphogenic proteins as regulators of iron metabolism.
    Parrow NL, Fleming RE. Annu Rev Nutr. (2014) Jun 4 [Epub ahead of print].
  • Sequestration and scavenging of iron in infection.
    Parrow NL, Fleming RE, Minnick MF. Infect Immun. (2013) 81(10):3503-14.
  • Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: A replication study.
    Galesloot TE, Guerts-Moespot AJ, et al. J Med Genet. (2013) 50(9):593-8.
  • Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload.
    Vujić Spasić M, Sparla R, et al. Biochim Biophys Acta. (2013) 1832(1):76-84.
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
  • Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions?
    Tomatsu S, Montano AM, et al. Mol Genet Metab. (2014) Jun 4 [Epub ahead of print].
  • Enzyme replacement therapy on hypophosphatasia mouse model.
    Oikawa H, Tomatsu S, et al. J Inherit Metab Dis. (2014) 37(2):309-317.
  • Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
    Dung VC, Tomatsu S, et al. Mol Genet Metab. (2013) 110(1-2):129-138.
  • Newborn screening and diagnosis of mucopolysaccharidoses.
    Tomatsu S, Fujii T et al. Mol Genet Metab. (2013) 110(1-2):42-53.
  • Newborn screening and diagnosis of mucopolysaccharidoses.
    Tomatsu S, Fujii T et al. Mol Genet Metab. (2013) 110(1-2):42-53.
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
  • The nucleosome remodeling and deacetylase complex in development and disease.
    Basta J, Rauchman M. Transl Res. (2014) May 10 [Epub ahead of print].
  • Sall1 balances self-renewal and differentiation of renal progenitor cells.
    Basta J, Robbins L, et al. Development. (2014) 141(5):1047-1058.
  • Mi-2/NuRD is required in renal progenitor cells during embryonic kidney development.
    Denner DR, Rauchman M. Dev Biol. (2013) 375(2):105-116.
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
Education
M.D., Ph.D., 1992, Shanghai Second Medical University, China
Research Interests
We are interested in the molecular and genetic mechanisms of cholesterol homeostasis and the pathophysiology of cholesterol-related diseases. Our current research focuses on the pathophysiology of cholesterol gallstone disease and genetic analysis of gallstone (Lith) genes, the molecular physiology and genetics of the intestinal cholesterol and fatty acid absorption, the biochemistry of bile formation, and the physical-chemistry of cholesterol crystallization in bile. Also, our research is directed principally at a specific area that appears to be fundamental to understanding nonalcoholic fatty liver disease, insulin resistance, and the metabolic syndrome.
Recent Publications
  • Therapeutic reflections in cholesterol homeostasis and gallstone disease: a review.
    Di Ciaula A, Wang DQ, et al. Curr Med Chem. (2014) 21(12):1435-1447.
  • Pathogenic role of oxidative and nitrosative stress in primary biliary cirrhosis.
    Grattagliano I, Calamita G, et al. World J Gastroenterol. (2014) 20(19):5746-5759.
  • A silybin-phospholipids complex counteracts rat fatty liver degeneration and mitochondrial oxidative changes..
    Grattagliano I, Diogo CV, et al. World J Gastroenterol. (2013) 19(20):3007-3017.
  • New insights into the molecular mechanism of intestinal fatty acid absorption.
    Wang TY, Liu M, et al. Eur J coin Invest. (2013) 43(11):1203-1223.
  • Steatosis in the liver.
    Wang DQ, Portincasa P, et al. Compr Physiol. (2013) 3(4):1493-1532.
  • Current views on genetics and epigenetics of cholesterol gallstone disease.
    Di Ciaula A, Wang DQ, et al. Cholesterol. (2013) 2013:298421.
  • Prevention of cholesterol gallstones by inhibiting hepatic biosynthesis and intestinal absorption of cholesterol.
    Wang HH, Portincasa P, et al. Eur J clin Invest. (2013) 43(4):413-426.