Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

W. A. Gahl(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Nava Bashan(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Frank Tietze(National Institute of Diabetes and Digestive and Kidney Diseases), Isa Bernardini(Eunice Kennedy Shriver National Institute of Child Health and Human Development), J D Schulman(Eunice Kennedy Shriver National Institute of Child Health and Human Development)
Science
September 24, 1982
Cited by 364

Abstract

The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was found to be deficient. In normal subjects, this system was resistant to N-ethylmaleimide and demonstrated saturation kinetics. Lysosomes from individuals heterozygous for cystinosis demonstrated a reduced maximum velocity for cystine egress from lysosomes. The rate of cystine escape from normal lysosomes was enhanced by adenosine triphosphate. The availability of normal and mutant lysosomes provides a means of investigating mechanisms of amino acid transport across lysosomal membranes.


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