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Article

Cystinosin-LKG rescues cystine accumulation and decreases apoptosis rate in cystinotic proximal tubular epithelial cells.

Pediatric research - 1 Jan 2017

Taranta Anna, Bellomo Francesco, Petrini Stefania, Polishchuk Elena, De Leo Ester, Rega Laura Rita, Pastore Anna, Polishchuk Roman, De Matteis Maria Antonietta, Emma Francesco

Abstract excerpt

BACKGROUND: 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. METHODS: We have analyzed the intracellular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27656773
DOI: 10.1038/pr.2016.184

Genes

CTNS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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