Cystinosis: Antibodies and healthy bodies

Journal of the American Society of Nephrology

Volumn 13, Issue 8, 2002, Pages 2189-2191

  Kleta, Robert ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; MERCAPTAMINE;

CYSTINOSIS; EDITORIAL; GENE DELETION; GENE ISOLATION; GENE MUTATION; GENETIC ANALYSIS; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0036066267     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000027098.90648.F2     Document Type: Editorial

References (44)

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3. Über die Cystinkrankheit der ersten lebenszeit
4. Die chronische aminoacidurie (aminosäurediabetes oder nephrotisch-glukosurischer zwergwuchs) bei der glykogenose und der cystinkrankheit
5. Die Entwicklung der biochemischen läsion bei der lignac-fanconischen krankheit
6. Cystinosis: A disorder of lysosomal membrane transport
7. Cystinosis coming of age
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10. Cystinosis: Electron microscopic evidence of lysosomal storage of cystine in lymph node
11. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue
12. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
13. Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leukocyte granular fractions
14. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes
15. ATP-dependent lysosomal cystine efflux is defective in cystinosis
16. Lysosomal cystine counter-transport in the detection of heterozygotes for cystinosis
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19. Cysteamine therapy for children with nephropathic cystinosis
20. Improved renal function in children with cystinosis treated with cysteamine
21. Long-term ocular manifestations in nephropathic cystinosis-post-renal transplantation
22. Removal of corneal crystals by topical cysteamine in nephropathic cystinosis
23. A randomized placebo-controlled trial of cysteamine eyedrops in nephropathic cystinosis
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26. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
27. 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
28. CTNS mutations in an American-based population of cystinosis patients
29. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
30. Mutations of CTNS causing intermediate cystinosis
31. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin
32. Molecular analysis of cystinosis: Probable Irish origin of the most common French Canadian mutation
33. Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations
34. CTNS mutations in African American patients with cystinosis
35. 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
36. Molecular characterization of CTNS deletions in nephropathic cystinosis: Develoment of a PCR-based detection assay
37. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif
38. The intralysosomal pH in cultured human skin fibroblasts in relation to cystine accumulation in patients with cystinosis
39. +-driven lysosomal cystine transporter
40. Expression of CTNS alleles: Subcellular localization and aminoglycoside correction in vitro
41. Immunolocalization of cystinosin, the protein defective in cystinosis
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43. Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts
44. I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization