Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients.
Wiśniewska K, Rintz E, Żabińska M, Gaffke L, Podlacha M, Cyske Z, Węgrzyn G, Pierzynowska K.
Wiśniewska K, et al.
Biochem Biophys Res Commun. 2024 Nov 12;733:150718. doi: 10.1016/j.bbrc.2024.150718. Epub 2024 Sep 19.
Biochem Biophys Res Commun. 2024.
PMID: 39305572
Free article.
Sanfilippo disease is a lysosomal storage disorder from the group of mucopolysaccharidoses (MPS), characterized by storage of glycosaminoglycans (GAGs); thus, it is also called MPS type III. The syndrome is divided into 4 subtypes (MPS III A, B, C and D). Despite th …
Sanfilippo disease is a lysosomal storage disorder from the group of mucopolysaccharidoses (MPS), characterized by storage of glycosaminogly …