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
  • Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
    Lee m, Vecchio-Pagan B, et al. Hum Mol Genet. (2016) Feb 23 [Epub ahead of print].
  • Clinical course of sly syndrome.
    Montano AM, Lock-Hock N, et al. J Med Genet. (2016) 53(6):403-418.
  • Pharmacologic manipulation of lysosomal enzyme transport across the blood-brain barrier.
    Urayama A, Grubb JH, et al. J Cereb Blood Flow Metab. (2016) 36(3):476-486.
  • 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.