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NAMDC: Investigating the Impact of Disease-Causing Missense Mutations in Pyruvate Dehydrogenase Complex Deficiency

NAMDC: Investigating the Impact of Disease-Causing Missense Mutations in Pyruvate Dehydrogenase Complex Deficiency
Sep 7, 2022 · 2m 7s

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Chemical Information and Modeling on July 7, 2022,...

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New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Chemical Information and Modeling on July 7, 2022, titled "Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function."

Read the paper here: https://pubs.acs.org/doi/10.1021/acs.jcim.2c00630

Learn more about NAMDC: https://www1.rarediseasesnetwork.org/cms/namdc
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