Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

Abstract excerpt

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine transporter. Cystinosis is characterized by the lysosomal accumulation of cystine, a dimer of cysteine, in all the cells of the body leading to multi-organ...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Enzymes and Metabolism
• Share to Biomedical Research and Pathophysiology
• Share to Neonatal Health and Biochemistry