Analysis of CTNS gene transcripts in nephropathic cystinosis-Reference-Cited by-同舟云学术

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Analysis of CTNS gene transcripts in nephropathic cystinosis

Published:2010-03-30 Issue:7 Volume:25 Page:1263-1267
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Taranta Anna,Wilmer Martijn J.,van den Heuvel Lambert P.,Bencivenga Paola,Bellomo Francesco,Levtchenko Elena N.,Emma Francesco

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-010-1502-5

Reference20 articles.

1. Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis. N Engl J Med 347:111–121

2. Gahl WA, Balog JZ, Kleta R (2007) Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 147:242–250

3. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van’t Hoff W, Antignac C (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319–324

4. Kalatzis V, Cherqui S, Antignac C, Gasnier B (2001) Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 20:5940–5949

5. Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F (2008) Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol 294:F1101–1108

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