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
  • Therapies for the bone in mucopolysaccharidosis.
    Tomatsu S, Almeciga-Diaz CJ, et al. Mol Genet Metab. (2014) Dec 9 [Epub ahead of print].
  • First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.
    Fox JE, Volpe L, et al. Mol Genet Metab. (2014) Nov 7 [Epub ahead of print].
  • The Nobel path of cellular proteins.
    Eisenberg JC, Sly WS. Mo Med. (2014) 111:114-119.
  • Morquio A syndrome: diagnosis and current and future therapies.
    Tomatsu S, Yasuda E, et al. Pediatr Endocrinol. (2014) 12(Suppl 1):141-151.
  • 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].
  • Expression patterns and subcellular localization of carbonic anhydrases are developmentally regulated during tooth formation.
    Reibring CG, El Shahawy M, et al. PLoS One. (2014) 9(5):e96007.
  • Luminol-based chemiluminescent signals: clinical and non-clinical application and future uses.
    Khan P, Idrees D, et al. Appl biochem Biotechnol. (2014) 173(2):333-355.
  • Expression of cancer-related carbonic anhydrases IX and XII in normal skin and skin neoplasms.
    Syrjanen L, Luukkaala T, et al. APMIS. (2014) 122(9):880-90.
  • Mitochondrial carbonic anhysrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
    van Karnebeek CD, Sly WS, et al. Am J Hum Genet. (2014) 94(3):453-461.
  • High resolution crystal structure of human beta-glucuronidase reveals structural basis of lysosome targeting.
    Hassan MI, Waheed A, et al. PLoS One. (2013) 8(11):e79687.
  • Membrane associated carbonic anhydrase IV (CA IV): A personal and historical perspective.
    Waheed A, Sly WS. Subcell. Biochem. (2014) 75:157-79.
  • Enzyme replacement therapy on hypophosphatasia mouse model.
    Oikawa H, Tomatsu S, et al. J Inherit Metab Dis. (2013) 37(2):309-17.
  • Activity and distribution of intracellular carbonic anhydrase II and their effects on the transport activity of anion exchanger AE1/SLC4A1.
    Al-Samir S, Papadopoulos S, et al. J Physiol. (2013) 591(Pt 20):4963-4982.
  • Human beta-glucuronidase: Structure, function and application in enzyme replacement therapy.
    Naz H, Islam A, et al. Rejuvenation Res. (2013) 16(5):352-363.
  • The final frontier - Crossing the blood-brain barrier.
    Sly WS and Vogler C. EMBO Mol Med. (2013) 5(5):655-7.
  • 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.