J W Callahan

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. ncbi request reprint Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein
    J W Callahan
    Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, ON, Canada
    Biochim Biophys Acta 1455:85-103. 1999
  2. pmc Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase
    A Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 67:23-36. 2000
  3. pmc Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis
    S Zhang
    Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8
    Biochem J 348:621-32. 2000
  4. ncbi request reprint The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein
    S Privitera
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Biol Chem 273:6319-26. 1998
  5. ncbi request reprint The biochemistry and clinical features of galactosialidosis
    Y Okamura-Oho
    Division of Neurosciences, Hospital for Sick Children, Toronto, Ont, Canada
    Biochim Biophys Acta 1225:244-54. 1994
  6. ncbi request reprint A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases
    N A Pham
    Richardson Technologies Inc, Toronto, Ontario, Canada
    J Inherit Metab Dis 28:991-1004. 2005

Collaborators

  • A Hinek
  • S Zhang
  • N A Pham
  • S Privitera
  • R D Bagshaw
  • A J Mohr
  • M R Gal
  • T Richardson
  • B Chue
  • C A Prody
  • Y Okamura-Oho

Detail Information

Publications6

  1. ncbi request reprint Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein
    J W Callahan
    Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, ON, Canada
    Biochim Biophys Acta 1455:85-103. 1999
    ..In this review, I focus mainly on the primary and secondary beta-galactosidase deficiency states and offer some hypotheses to account for differences between GM1 gangliosidosis and Morquio B disease...
  2. pmc Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase
    A Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 67:23-36. 2000
    ....
  3. pmc Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis
    S Zhang
    Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8
    Biochem J 348:621-32. 2000
    ..This accounts for the minimal amounts of enzyme protein and activity seen in most G(M1) gangliosidosis patient fibroblasts...
  4. ncbi request reprint The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein
    S Privitera
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Biol Chem 273:6319-26. 1998
    ..Transfection of DA SMC additionally corrected their impaired elastic fiber assembly. These results conclusively identify the 67-kDa splice variant of beta-galactosidase as EBP...
  5. ncbi request reprint The biochemistry and clinical features of galactosialidosis
    Y Okamura-Oho
    Division of Neurosciences, Hospital for Sick Children, Toronto, Ont, Canada
    Biochim Biophys Acta 1225:244-54. 1994
    ....
  6. ncbi request reprint A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases
    N A Pham
    Richardson Technologies Inc, Toronto, Ontario, Canada
    J Inherit Metab Dis 28:991-1004. 2005
    ..In summary, applying the RTM imaging system to fibroblasts enables differences between the various disease types to be seen and, in specific examples, a unique phenotype can be readily discerned...