Associated Papers
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
37561577 (PubMed )
Supplement: jci-133-169551-s166.pdf
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Structure and mechanism of human cystine exporter cystinosin.
Guo X et al.
Cell, 2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L et al.
Diagnostic Pathology, 2022
In Vitro and In Vivo Models to Study Nephropathic Cystinosis.
Cheung PY et al.
Cells, 2021
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
ERS1 encodes a functional homologue of the human lysosomal cystine transporter.
Gao XD et al.
The Febs Journal, 2005
Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome.
Laube GF et al.
Pediatric Nephrology (berlin, Germany), 2005
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Kalatzis V et al.
Human Molecular Genetics, 2004
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