Article
An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).
Scientific reports - 27 Oct 2023
Pollock Kari, Noritake Sabrina, Imai Denise M, Pastenkos Gabrielle, Olson Marykate, Cary Whitney, Yang Sheng, Fierro Fernando A, White Jeannine, Graham Justin, Dahlenburg Heather, Johe Karl, Nolta Jan A
Abstract excerpt
Mucopolysaccharidosis III (MPSIII, Sanfilippo syndrome) is a devastating lysosomal storage disease that primarily affects the central nervous system. MPSIIIA is caused by loss-of-function mutations in the gene coding for sulfamidase (N-sulfoglucosamine sulfohydrolase/SGSH) resulting in SGSH enzyme deficiency, a buildup of heparin sulfate and subsequent neurodegeneration. There is currently no cure or disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.