Article
Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).
Molecular & cellular proteomics : MCP - 1 Mar 2017
Nevo Nathalie, Thomas Lucie, Chhuon Cerina, Andrzejewska Zuzanna, Lipecka Joanna, Guillonneau François, Bailleux Anne, Edelman Aleksander, Antignac Corinne, Guerrera Ida Chiara
Abstract excerpt
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by intralysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100 mutations have been reported, leading to varying disease severity, often in correlation with residual cystinosin activity as a transporter and with...
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