Has the Basic Metabolic Defect of Cystinosis Been Discovered?

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 1989 Jan 1

PMID 2702086

Citations 1

Authors

J A Schneider

Affiliations

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References

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Jonas A, Smith M, Schneider J . ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem. 1982; 257(22):13185-8. View

Rosenblatt D, Hosack A, Matiaszuk N, Cooper B, Laframboise R . Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Science. 1985; 228(4705):1319-21. DOI: 10.1126/science.4001945. View

Jonas A . Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. Biochem Biophys Res Commun. 1986; 137(1):175-81. DOI: 10.1016/0006-291x(86)91192-7. View

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Thoene J, Oshima R, Ritchie D, Schneider J . Cystinotic fibroblasts accumulate cystine from intracellular protein degradation. Proc Natl Acad Sci U S A. 1977; 74(10):4505-7. PMC: 431972. DOI: 10.1073/pnas.74.10.4505. View

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Bernar J, Tietze F, Kohn L, Bernardini I, Harper G, Grollman E . Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells. J Biol Chem. 1986; 261(36):17107-12. View

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10.

Pisoni R, Flickinger K, Thoene J, CHRISTENSEN H . Characterization of carrier-mediated transport systems for small neutral amino acids in human fibroblast lysosomes. J Biol Chem. 1987; 262(13):6010-7. View

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Pisoni R, Thoene J, Lemons R, CHRISTENSEN H . Important differences in cationic amino acid transport by lysosomal system c and system y+ of the human fibroblast. J Biol Chem. 1987; 262(31):15011-8. View

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Renlund M, Tietze F, Gahl W . Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science. 1986; 232(4751):759-62. DOI: 10.1126/science.3961501. View