Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 3 of 3 for “"N-acetylgalactosamine-6-sulfatase"”.
-
Analysis of Macrophage-‐Derived Inflammatory Response in the Presence of Glycosaminoglycans: A Possible Clue on the Role of Inflammation in the Pathogenesis of Morquio A
… by the functional loss of the enzyme N-‐acetylgalactosamine-‐6-‐ sulfatase (GALNS). The absence of GALNS leads to the chronic accumulation of the glycosaminoglycans keratan sulfate (KS) and possibly chondroitin-‐6 sulfate (C6S). KS accumulation occurs in the lysosomes of KS-‐rich …
-
Evaluation of Select Publicly Available in Silico Methods for Predicting Functional Effects of Missense Mutations in the GALNS Gene
… caused by a deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In the severe form of the disease, life expectancy is less than 30 years. More than 200 unique missense mutations have been identified in the GALNS gene, with effects ranging from no change in function …
-
Development of a Cellular Model for Morquio A Syndrome
… disorder characterized by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), resulting in the accumulation of glycosaminoglycans (GAGs) such as keratan sulfate (KS) (Northover et al., 1996) and chondroitin-6-sulfate. There is no applicable animal model or appropriate cell lines …