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
  • Pharmacologic manipulation of lysosomal enzyme transport across the blood-brain barrier.
    Urayama A, Grubb JH, et al. J Cereb Blood Flow Metab. (2015) Nov 3 [Epub ahead of print].
  • Alpha adrenergic induction of transport of lysosomal enzyme across the blood-brain barrier.
    Urayama A, Dohgu S, et al. PLoS One. (2015) 10(11):e0142347.
  • Normal fertility requires expression of carbonic anhydrases II and IV in sperm.
    Wandernoth PM, Mannowetz N, et al. J Biol Chem. (2015) 290(49):29202-29216.
  • Large scale analysis of the mutational landscape in beta-glucuronidase: A major player of mucopolysaccahridosis type VII.
    Khan FI, Shahbaaz M, et al. Gene. (2015) 576(Pt 1):36-44.
  • Correction: High resolution crystal structure of human beta-glucuronidase reveals structural basis of lysosome targeting.
    Hassan MI, Waheed A, et al. PLoS One. (2015) 10(9):e0138401.
  • Therapies for the bone in mucopolysaccharidosis.
    Tomatsu S, Almeciga-Diaz CJ, et al. Mol Genet Metab. (2015) 114(2):94-109.
  • 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. (2015) 114(2):203-208.
  • 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. (2015) 114(2):195-202.
  • 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.