Cystinosis: Selective Induction of Vacuolation in Fibroblasts by L-Cysteine-D-Penicillamine Disulfide

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Science  07 Aug 1970:
Vol. 169, Issue 3945, pp. 595-597
DOI: 10.1126/science.169.3945.595


In cultured fibroblasts from individuals with cystinosis vacuolation is induced by exposure to L-cysteine-D-penicillamine disulfide. Normal fibroblasts do not show vacuolation on such exposure. These observations provide direct evidence that cystinotic cells have deficient activity of a lysosomal system for disulfide metabolism or transport. Induction of vacuolation by the mixed disulfide in cystinotic but not in normal cells furnishes a histological marker for cystinotic fibroblasts.

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