J W Callahan
Affiliation: The Hospital for Sick Children
- Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like proteinJ 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...
- 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-galactosidaseA Hinek
Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 67:23-36. 2000....
- Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosisS 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...
- The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding proteinS 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...
- The biochemistry and clinical features of galactosialidosisY Okamura-Oho
Division of Neurosciences, Hospital for Sick Children, Toronto, Ont, Canada
Biochim Biophys Acta 1225:244-54. 1994....
- A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseasesN 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...