Nephropathic cystinosis is a lysosomal storage disease that is caused by mutations in the CTNS gene encoding a cystine/proton symporter cystinosin and an isoform cystinosin-LKG which is generated by an alternative splicing of exon 12. We have investigated the physiological role of the cystinosin-LKG that is widely expressed in epithelial tissues.
Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells / Taranta, Anna; Bellomo, Francesco; Petrini, Stefania; Polishchuk, Elena; De Leo, Ester; Rega, Laura Rita; Pastore, Anna; Polishchuk, Roman; DE MATTEIS, Maria Antonietta; Emma, Francesco. - In: PEDIATRIC RESEARCH. - ISSN 0031-3998. - (2016). [10.1038/pr.2016.184]
Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells
DE MATTEIS, Maria Antonietta;
2016
Abstract
Nephropathic cystinosis is a lysosomal storage disease that is caused by mutations in the CTNS gene encoding a cystine/proton symporter cystinosin and an isoform cystinosin-LKG which is generated by an alternative splicing of exon 12. We have investigated the physiological role of the cystinosin-LKG that is widely expressed in epithelial tissues.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
