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• W2187789425 abstract "Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused due to the deficiency of lysosomal human α-L- iduronidase (IDUA) enzyme that catalyzes degradation of glycoaminoglycans (GAG) like heparan and dermatan sulfate. GAG is an important constituent of the extracellular matrix, joint fluid, and connective tissue throughout the body. Progressive accumulation of GAG within the cells of various organs ultimately compromises their function. The major sites of disease differ depending on the specific enzyme deficiency. Due to the absence of three dimensional structure of IDUA, structural-functional relationship of certain mutants leading to various clinical phenotypes are not well known. Totally 82 point mutations in IDUA gene associated with MPS I have been reported. Hence to study the role of IDUA, homology model of various IDUA mutants were constructed by the help of bioinformatics tools using standard protocols. The tool used for homology modeling is the Swiss- Model which is a server for automated comparative modeling of three-dimensional protein structures. Swiss model provides several levels of user interaction through its World Wide Web interface: in the 'first approach mode' only an amino acid sequence of a protein is submitted to build a 3D model. Template selection, alignment and model building are done completely automated by the server. In the 'alignment mode', the modeling process is based on a user-defined target-template alignment. Complex modeling tasks can be handled with the 'project mode' using Deep-View (Swiss-PdbViewer), an integrated sequence-to-structure workbench. Molecular modeling was done to find the binding abilities of the mutant models hence determining the functional aberrations by using 4-methylumbelliferyl α-L- iduronide as the ligand. Also, the interactions of these mutants with the specific ligand were checked using molecular auto-docking tools. Results after carrying molecular docking showed that the severe and the moderate mutant forms caused a major disruption in the structure of the enzyme hence the efficiency or binding ability of the ligand was seen to deteriorate with the severity of the disorder, MPS I while the mild forms showed very minute disruption in the structure of the enzyme. Hence we can conclude that structural-functional characterization of the mutants may help in treatment of Mucopolysaacharidosis Type I by knowing the efficiency of binding of the receptor and substrate." @default.
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• W2187789425 date "2013-01-01" @default.
• W2187789425 modified "2023-09-24" @default.
• W2187789425 title "MUCOPOLYSACCHARIODOSIS TYPE 1: STRUCTURAL AND FUNCTIONAL ANALYSIS OF THE DISEASE CAUSING PROTEIN USING BIOINFORMATICS TOOLS" @default.
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