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
Structural basis for proton coupled cystine transport by cystinosin.
Löbel M et al.
Nature Communications, 2022
35977944 (PubMed )
Supplement: 41467_2022_32589_MOESM1_ESM.pdf
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L et al.
Diagnostic Pathology, 2022
Ocular manifestations of intermediate cystinosis: To treat or not to treat?
Sousa-Neves F et al.
European Journal of Ophthalmology, 2020
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Al-Haggar M
World Journal of Nephrology, 2013
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2009
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
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
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