Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations

[Image: see text] 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 inherited, lik...

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Detalles Bibliográficos
Autores principales: Agostino, Mark, McKenzie, Fiona, Buck, Chloe, Woodward, Karen J., Atkinson, Vanessa J., Azmanov, Dimitar N., Heng, Julian Ik-Tsen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330222/
https://www.ncbi.nlm.nih.gov/pubmed/35910155
http://dx.doi.org/10.1021/acsomega.2c00959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330222/
https://www.ncbi.nlm.nih.gov/pubmed/35910155
http://dx.doi.org/10.1021/acsomega.2c00959

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