Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (8)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Kalatzis, V.
Right arrow Articles by Antignac, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kalatzis, V.
Right arrow Articles by Antignac, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nephrol Dial Transplant (2002) 17: 1883-1886
© 2002 European Renal Association-European Dialysis and Transplant Association

Invited Comment

Cystinosis: from gene to disease

Vasiliki Kalatzis1, and Corinne Antignac1,2

1 Inserm U423 and 2 Département de Génétique, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France

Keywords: cystine; cystinosis; Fanconi syndrome; lysosome; transporter

The first 150 words of the full text of this article appear below.

Introduction

Lysosomes are intracellular sacs of enzymes that are responsible for the digestion of macromolecules. The products of the hydrolytic digestion process then leave the lysosome via specific transporters in its membrane, to be either reused by the cell or excreted outwards. The general consensus about cystinosis has been that it is an inherited multi-systemic disease resulting from failure of lysosomal cystine transport. However, it has only been since the cloning of the causative gene, CTNS (short for cystinosis), and the study of the encoded protein, cystinosin, that the molecular basis of this disorder has been understood.

Clinical description

Cystinosis (MIM 219800) is the most common inherited cause of the renal Fanconi syndrome. The most severe form, infantile cystinosis, manifests generally between 6 and 12 months of age by fluid and electrolyte loss, aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, rickets and growth retardation [1]. . . . [Full Text of this Article]

Underlying metabolic defect

CTNS and causative mutations

Subcellular localization of cystinosin

Function of cystinosin

Perspectives


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
N. Nevo, M. Chol, A. Bailleux, V. Kalatzis, L. Morisset, O. Devuyst, M.-C. Gubler, and C. Antignac
Renal phenotype of the cystinosis mouse model is dependent upon genetic background
Nephrol. Dial. Transplant., October 21, 2009; (2009) gfp553v1.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Renal Physiol.Home page
A. Taranta, S. Petrini, A. Palma, L. Mannucci, M. J. Wilmer, V. De Luca, F. Diomedi-Camassei, S. Corallini, F. Bellomo, L. P. van den Heuvel, et al.
Identification and subcellular localization of a new cystinosin isoform
Am J Physiol Renal Physiol, May 1, 2008; 294(5): F1101 - F1108.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. C. Chai, J. R. Bruyere, and M. J. Maroney
Probes of the Catalytic Site of Cysteine Dioxygenase
J. Biol. Chem., June 9, 2006; 281(23): 15774 - 15779.
[Abstract] [Full Text] [PDF]