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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Cystinosis


High impact information on Cystinosis


Chemical compound and disease context of Cystinosis


Biological context of Cystinosis


Anatomical context of Cystinosis


Gene context of Cystinosis

  • Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined [16].
  • Interestingly, both CTNS and CARKL are absent in nearly half of all cystinosis patients (i.e., those homozygous for the common deletion) [24].
  • Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis [25].
  • In the current study, we compared the catalytic rate constants for the conversion of palmitoyl-CoA (a PPT substrate) and cystine (which accumulates in cystinosis) by cysteamine [26].
  • Although ATP-dependent lysosomal cystine efflux is not demonstrable in cultured lymphoblasts from individuals with nephropathic cystinosis, ATPase activity and acidification in lysosomes from these cells is comparable to that in noncystinotic lysosomes [27].

Analytical, diagnostic and therapeutic context of Cystinosis


  1. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S.A., Callen, D.F., Gribouval, O., Broyer, M., Bates, G.P., van't Hoff, W., Antignac, C. Nat. Genet. (1998) [Pubmed]
  2. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. Gahl, W.A., Dalakas, M.C., Charnas, L., Chen, K.T., Pezeshkpour, G.H., Kuwabara, T., Davis, S.L., Chesney, R.W., Fink, J., Hutchison, H.T. N. Engl. J. Med. (1988) [Pubmed]
  3. Cysteamine therapy for children with nephropathic cystinosis. Gahl, W.A., Reed, G.F., Thoene, J.G., Schulman, J.D., Rizzo, W.B., Jonas, A.J., Denman, D.W., Schlesselman, J.J., Corden, B.J., Schneider, J.A. N. Engl. J. Med. (1987) [Pubmed]
  4. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. Thoene, J.G., Oshima, R.G., Crawhall, J.C., Olson, D.L., Schneider, J.A. J. Clin. Invest. (1976) [Pubmed]
  5. NIH conference. Cystinosis: progress in a prototypic disease. Gahl, W.A., Thoene, J.G., Schneider, J.A., O'Regan, S., Kaiser-Kupfer, M.I., Kuwabara, T. Ann. Intern. Med. (1988) [Pubmed]
  6. Improved renal function in children with cystinosis treated with cysteamine. Markello, T.C., Bernardini, I.M., Gahl, W.A. N. Engl. J. Med. (1993) [Pubmed]
  7. Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. Steinherz, R., Tietze, F., Triche, T., Modesti, A., Gahl, W.A., Schulman, J.D. N. Engl. J. Med. (1982) [Pubmed]
  8. Ineffectiveness of ascorbic acid therapy in nephropathic cystinosis. Schneider, J.A., Schlesselman, J.J., Mendoza, S.A., Orloff, S., Thoene, J.G., Kroll, W.A., Godfrey, A.D., Schulman, J.D. N. Engl. J. Med. (1979) [Pubmed]
  9. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Gahl, W.A., Bashan, N., Tietze, F., Bernardini, I., Schulman, J.D. Science (1982) [Pubmed]
  10. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. Gahl, W.A., Bernardini, I., Dalakas, M., Rizzo, W.B., Harper, G.S., Hoeg, J.M., Hurko, O., Bernar, J. J. Clin. Invest. (1988) [Pubmed]
  11. Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. Reiss, R.E., Kuwabara, T., Smith, M.L., Gahl, W.A. N. Engl. J. Med. (1988) [Pubmed]
  12. Metabolism of pantethine in cystinosis. Wittwer, C.T., Gahl, W.A., Butler, J.D., Zatz, M., Thoene, J.G. J. Clin. Invest. (1985) [Pubmed]
  13. Pituitary-testicular function in nephropathic cystinosis. Chik, C.L., Friedman, A., Merriam, G.R., Gahl, W.A. Ann. Intern. Med. (1993) [Pubmed]
  14. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. Kalatzis, V., Cherqui, S., Antignac, C., Gasnier, B. EMBO J. (2001) [Pubmed]
  15. CTNS mutations in an American-based population of cystinosis patients. Shotelersuk, V., Larson, D., Anikster, Y., McDowell, G., Lemons, R., Bernardini, I., Guo, J., Thoene, J., Gahl, W.A. Am. J. Hum. Genet. (1998) [Pubmed]
  16. The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Phornphutkul, C., Anikster, Y., Huizing, M., Braun, P., Brodie, C., Chou, J.Y., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  17. Lysosomal cystine counter-transport in heterozygotes for cystinosis. Gahl, W.A., Bashan, N., Tietze, F., Schulman, J.D. Am. J. Hum. Genet. (1984) [Pubmed]
  18. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Attard, M., Jean, G., Forestier, L., Cherqui, S., van't Hoff, W., Broyer, M., Antignac, C., Town, M. Hum. Mol. Genet. (1999) [Pubmed]
  19. Cystine accumulation and loss in normal, heterozygous, and cystinotic fibroblasts. Jonas, A.J., Greene, A.A., Smith, M.L., Schneider, J.A. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  20. Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. Kimonis, V.E., Troendle, J., Rose, S.R., Yang, M.L., Markello, T.C., Gahl, W.A. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  21. Cystine storage in cultured myotubes from patients with nephropathic cystinosis. Harper, G.S., Bernardini, I., Hurko, O., Zuurveld, J., Gahl, W.A. Biochem. J. (1987) [Pubmed]
  22. Patterns of cystine reduction by fibroblasts from normal and cystinotic children. States, B., Harris, D., Segal, S. Pediatr. Res. (1977) [Pubmed]
  23. Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Dohil, R., Fidler, M., Barshop, B., Newbury, R., Sellers, Z., Deutsch, R., Schneider, J. Pediatr. Nephrol. (2005) [Pubmed]
  24. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Touchman, J.W., Anikster, Y., Dietrich, N.L., Maduro, V.V., McDowell, G., Shotelersuk, V., Bouffard, G.G., Beckstrom-Sternberg, S.M., Gahl, W.A., Green, E.D. Genome Res. (2000) [Pubmed]
  25. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Cherqui, S., Sevin, C., Hamard, G., Kalatzis, V., Sich, M., Pequignot, M.O., Gogat, K., Abitbol, M., Broyer, M., Gubler, M.C., Antignac, C. Mol. Cell. Biol. (2002) [Pubmed]
  26. Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis. Lu, J.Y., Hofmann, S.L. J. Inherit. Metab. Dis. (2006) [Pubmed]
  27. Proton-translocating ATPase and lysosomal cystine transport. Jonas, A.J., Smith, M.L., Allison, W.S., Laikind, P.K., Greene, A.A., Schneider, J.A. J. Biol. Chem. (1983) [Pubmed]
  28. Course of nephropathic cystinosis after age 10 years. Gahl, W.A., Schneider, J.A., Thoene, J.G., Chesney, R. J. Pediatr. (1986) [Pubmed]
  29. Long-term treatment with growth hormone in short children with nephropathic cystinosis. Wühl, E., Haffner, D., Offner, G., Broyer, M., van't Hoff, W., Mehls, O. J. Pediatr. (2001) [Pubmed]
  30. Cystinosis and gingival hyperplasia: demonstration of cystine crystals in gingival tissue and unusual aspects of management. Heller, A.N., Heller, D.S., Schwimmer, A., Gordon, R.E., Cambria, R.J. J. Periodontol. (1994) [Pubmed]
  31. Ascorbic acid treatment in nephropathic cystinosis in identical twins. Oberfield, S.E., Levine, L.S., Wellner, D., Novogroder, M., Laino, P., New, M.I. Developmental pharmacology and therapeutics. (1981) [Pubmed]
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