Article
Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons - 1 Nov 2018
Elmonem Mohamed A, Veys Koenraad, Oliveira Arcolino Fanny, Van Dyck Maria, Benedetti Maria C, Diomedi-Camassei Francesca, De Hertogh Gert, van den Heuvel Lambertus P, Renard Marleen, Levtchenko Elena
Abstract excerpt
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the defective transport of the amino acid cystine out of the lysosome due to a deficiency of cystinosin, the lysosomal cystine transporter. Patients have lysosomal cystine accumulation in various tissues, leading to cellular stress and damage, particularly in the kidney, cornea, and other extrarenal tissues. Cysteamine, a...
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