Sorted muscle cells, cultured from a patient with nephropathic cystinosis, stored 100 times normal amounts of cystine. Subcellular fractionation and density-gradient centrifugation confirmed that the cystine was located in a lysosomal compartment. 2. Myoblasts from cystinotic patients in culture underwent fusion to myotubes in a normal fashion. 3. The free thiol cysteamine effectively depleted ...

The project has progressed according to the original research plan with the most significant findings detailed in Aim 2 demonstrating the anti-fibrotic potential of cysteamine. Current efforts are focused on the investigating the effect of cysteamine on myofibroblasts, the primary cell producing extracellular matrix during kidney fibrosis. Furthermore, in our investigation of fibrogenic mechani...

A Co-Occurrence of Osteogenesis Imperfecta Type VI and Cystinosis Tracy Tucker, Tanya Nelson, Sandra Sirrs, Peter Roughley, Francis H. Glorieux, Pierre Moffatt, Kamilla Schlade-Bartusiak, Lindsay Brown, and Frank Rauch* Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Adult Metabolic Diseases Clinic, Vancouver General Hospital,...

The dehydration of a iodobismuthate hybrid built up from Bi(4)I(16) clusters and protonated L-cystine molecules involves an unprecedented reversible dynamic structural change in the solid state leading to 1D BiI(4) chains and 1D helical molecular chains, highlighting the templating effect of cations in the formation of iodobismuthate network.