Literature DB >> 12110740

Cystinosis.

William A Gahl1, Jess G Thoene, Jerry A Schneider.   

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Year:  2002        PMID： 12110740     DOI： 10.1056/NEJMra020552

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  228 in total

1.  Detailed studies of growth hormone secretion in cystinosis patients.

Authors:  Martine T P Besouw; Maria Van Dyck; Inge Francois; Elke Van Hoyweghen; Elena N Levtchenko
Journal:  Pediatr Nephrol       Date:  2012-06-05       Impact factor: 3.714

2.  Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

Authors:  Raquel Ruivo; Gian Carlo Bellenchi; Xiong Chen; Giovanni Zifarelli; Corinne Sagné; Cécile Debacker; Michael Pusch; Stéphane Supplisson; Bruno Gasnier
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-09       Impact factor: 11.205

3.  Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).

Authors:  Nathalie Nevo; Lucie Thomas; Cerina Chhuon; Zuzanna Andrzejewska; Joanna Lipecka; François Guillonneau; Anne Bailleux; Aleksander Edelman; Corinne Antignac; Ida Chiara Guerrera
Journal:  Mol Cell Proteomics       Date:  2017-01-12       Impact factor: 5.911

4.  Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.

Authors:  Jennifer L Simpson; Chyong Jy Nien; Kevin J Flynn; James V Jester
Journal:  Mol Vis       Date:  2011-10-08       Impact factor: 2.367

5.  Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

Authors:  Hakan Doneray; Mohammed Aldahmesh; Gulsah Yilmaz; Emine Cinici; Zerrin Orbak
Journal:  Eurasian J Med       Date:  2017-06

6.  Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.

Authors:  Ahmed Reda; Ann Van Schepdael; Erwin Adams; Prasanta Paul; David Devolder; Mohamed A Elmonem; Koenraad Veys; Ingele Casteels; Lambertus van den Heuvel; Elena Levtchenko
Journal:  JIMD Rep       Date:  2017-12-07

Review 7.  C. elegans as a model for membrane traffic.

Authors:  Ken Sato; Anne Norris; Miyuki Sato; Barth D Grant
Journal:  WormBook       Date:  2014-04-25

8.  Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.

Authors:  Héloïse P Gaide Chevronnay; Virginie Janssens; Patrick Van Der Smissen; Francisca N'Kuli; Nathalie Nevo; Yves Guiot; Elena Levtchenko; Etienne Marbaix; Christophe E Pierreux; Stéphanie Cherqui; Corinne Antignac; Pierre J Courtoy
Journal:  J Am Soc Nephrol       Date:  2014-02-13       Impact factor: 10.121

9.  Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

Authors:  Giusi Prencipe; Ivan Caiello; Stephanie Cherqui; Thomas Whisenant; Stefania Petrini; Francesco Emma; Fabrizio De Benedetti
Journal:  J Am Soc Nephrol       Date:  2014-02-13       Impact factor: 10.121

Review 10.  Lysosome dysfunction in the pathogenesis of kidney diseases.

Authors:  Kameswaran Surendran; Seasson P Vitiello; David A Pearce
Journal:  Pediatr Nephrol       Date:  2013-11-12       Impact factor: 3.714
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