[HTML][HTML] Impact of cystinosin glycosylation on protein stability by differential dynamic stable isotope labeling by amino acids in cell culture (SILAC)
N Nevo, L Thomas, C Chhuon, Z Andrzejewska… - Molecular & Cellular …, 2017 - ASBMB
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by
intralysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which
encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100
mutations have been reported, leading to varying disease severity, often in correlation with
residual cystinosin activity as a transporter and with maintenance of its protein-protein
interactions. In this study, we focus on the ΔITILELP mutation, the only mutation reported that …
intralysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which
encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100
mutations have been reported, leading to varying disease severity, often in correlation with
residual cystinosin activity as a transporter and with maintenance of its protein-protein
interactions. In this study, we focus on the ΔITILELP mutation, the only mutation reported that …