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CTNS gene

Known as: CTNS-LSB, cystinosin, lysosomal cystine transporter, CTNS 
National Institutes of Health

Papers overview

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2017
2017
The lysosomal storage disease cystinosis, caused by cystinosin deficiency, is characterized by cell malfunction, tissue failure… 
Highly Cited
2016
Highly Cited
2016
Cystinosis is a rare autosomal recessive storage disorder characterized by defective lysosomal efflux of cystine due to mutations… 
2012
2012
Classification of proteins into families based on remote homology often helps prediction of their biological function. Here we… 
2012
2012
Secondary active transporters use electrochemical gradients provided by primary ion pumps to translocate metabolites or drugs… 
Highly Cited
2004
Highly Cited
2004
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile… 
Highly Cited
2001
Highly Cited
2001
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However… 
Highly Cited
2001
Highly Cited
2001
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies… 
Highly Cited
1999
Highly Cited
1999
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across…