Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations
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DOI: 10.1021/acsomega.2c00959
Abstract: Missense variants in UBE3A underlie neurodevelopmental conditions such as Angelman Syndrome and Autism Spectrum Disorder, but the underlying molecular pathological consequences on protein folding and function are poorly understood. Here, we report a novel, maternally… read more here.
Keywords: sampling molecular; enhanced sampling; missense; missense variants ... See more keywords