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Characterization Of A Mucopolysaccharidosis Type I And Galnac Transferase Deficiency Double Knockout Mouse, Karan Gera
Graduate Theses and Dissertations
The mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) which are characterized by the aberrant primary storage of glycosaminoglycans (GAGs) in lysosomes of multiple organ and tissue systems. The most commonly diagnosed is MPS Type I (MPS I), caused by mutations in the gene which codes for α-L-iduronidase (IDUA). Biochemically, MPS I is characterized by the aberrant primary lysosomal storage of incompletely degraded dermatan and heparan sulfates, along with a secondary accumulation of gangliosides and other compounds in lysosomes. Its clinical manifestation in severe form leads to early death, characterized by progressive central nervous system disease (with behavioral ...