Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model

• Published in: Cell transplantation Vol. 34; p. 9636897251323966
• Main Authors: Badell-Grau, Rafael A., Pakravesh, Kasra, Thai, Kevin Eric, Son, Frankie, Chen, Rola, Rainaldi, Joseph, Duong, Kalvin, Losay, Pauline, Sivakumar, Anusha, Khare, Veenita, Corl, Alexis N., Pithia, Rushil, Tran, Christine, Esko, Jefferey D., Cherqui, Stephanie
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01.03.2025; Sage Publications Ltd; SAGE Publishing
• Subjects: Acetyltransferase; Acetyltransferases - deficiency; Acetyltransferases - genetics; Acetyltransferases - metabolism; Animals; Carbohydrates; Cell Differentiation; Cell-based therapies for kidney disease; Disease Models, Animal; Enzymatic activity; Fibrosis; Glucosamine; Glucosamine N-acetyltransferase; Glycosaminoglycans; Glycosaminoglycans - metabolism; Hematopoietic Stem Cell Transplantation; Hematopoietic stem cells; Hematopoietic Stem Cells - cytology; Hematopoietic Stem Cells - metabolism; Hemopoiesis; Heparan sulfate; Lysosomal storage diseases; Macrophages; Mice; Mice, Inbred C57BL; Mice, Knockout; Microglia; Mucopolysaccharidosis; Mucopolysaccharidosis III - metabolism; Mucopolysaccharidosis III - pathology; Mucopolysaccharidosis III - therapy; Neurology; Phenotype; Phenotypes; Progenitor cells; Sclerosis; Splenomegaly; Transplantation; Transplants & implants; macrophages; glycosaminoglycans (GAGs); transmembrane lysosomal protein; hematopoietic stem and progenitor cells (HSPCs); lysosomal storage disorder (LSD); heparan sulfate (HS); Sanfilippo syndrome; microglia

Mucopolysaccharidosis type IIIC (MPS IIIC) is a severe neurodegenerative lysosomal storage disease caused by the loss-of-function of the lysosomal transmembrane protein acetyl-CoA: heparan-α-glucosamine N-acetyltransferase. MPS IIIC is characterized by the accumulation of the glycosaminoglycan (GAG)...