• In‐Silico Screening and Microsecond Molecular Dynamics Simulations to Identify Single Point Mutations That Destabilize β‐hexosaminidase A Causing Tay‐Sachs Disease

    3 days ago - By Wiley

    Abstract
    β-hexosaminidase A protein is responsible for the degradation of GM2 gangliosides in the central and peripheral nervous systems. Tay-Sachs disease occurs when HexA within Hexosaminidase does not properly function and harmful GM2 gangliosides begin to build up within the neurons. In this study, in silico methods such as the SIFT, PolyPhen-2, PhD-SNP, and MutPred were utilized to analyze the effects of non-synonymous single nucleotide polymorphisms on HexA in order to identify possible pathogenetic and deleterious variants. Molecular dynamics simulations showed that two mutants...
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