Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is
an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene …

At least 10% of adults and nearly all children who receive renal-replacement therapy have
an inherited kidney disease. These patients rarely die when their disease progresses and …

Cystinosis is caused by mutations in the CTNS gene (17p13. 2), which encodes for a
lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of …

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 …

Alzheimer's disease (AD) is the most prevalent cause of dementia; microglia have been
implicated in AD pathogenesis, but their role is still matter of debate. Our study showed that …

Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine
accumulation, which is usually treated by oral cysteamine. In order to determine long-term …

Cell-generated extracellular vesicles (EVs) are being engineered as biologically-inspired
vehicles for targeted delivery of therapeutic agents to treat difficult-to-manage human …

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino
acid cystine due to a defect in the membrane transport protein, cystinosin. Since the …

Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in
young children with failure to thrive and signs of renal proximal tubular damage. The …

Despite controversies on the potential of hematopoietic stem cells (HSCs) to promote tissue
repair, we previously showed that HSC transplantation could correct cystinosis, a …