Cystinosis is an autosomal recessive metabolic disease that belongs to the family of
lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter …

Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter
cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease …

Nephropathic cystinosis is a severe, monogenic systemic disorder that presents early in life
and leads to progressive organ damage, particularly affecting the kidneys. It is caused by …

Cystinosin is a lysosomal transmembrane protein which facilitates transport of the disulphide
amino acid cystine (CySS) from the lysosomes of the cell. This protein is encoded by the …

Visceral leishmaniasis (VL) is marked by hyperactivation of a humoral response secreting
high quantity of immunoglobulins (Igs) that are inaccessible to intracellular parasites. Here …

Nephropathic cystinosis is a rare monogenetic kidney disease caused by mutations in the
lysosomal transporter cystinosin (encoded by CTNS) that, to date, has no cure. The hallmark …

Background: Nephropathic cystinosis is a lysosomal storage disease that is caused by
mutations in the CTNS gene encoding a cystine/proton symporter cystinosin and an isoform …

Purpose Cystinosis is an autosomal recessive lysosomal storage disease (LSDs) caused by
mutations in the gene encoding cystinosin (CTNS) that leads to cystine crystal accumulation …

Background Nephropathic cystinosis is an autosomal recessive disease caused by a
mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The …

Cystinosin, a lysosomal transporter is involved in the efflux of cystine from the lysosome to
the cytosol. Mutations in the human cystinosin gene (CTNS) cause cystinosis, a recessive …