Associated Papers
MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.
Bondue T et al.
American Journal of Physiology. Renal Physiology, 2024
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
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC et al.
Ophthalmic Genetics, 2019
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
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
Alcántara-Ortigoza MA et al.
Genetic Testing, 2008
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
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V et al.
Human Mutation, 2002
Select a paper to view details