Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

Frataxin (FXN) is a highly-conserved protein found in prokaryotes and eukaryotes that is required for an efficient regulation of cellular iron homeostasis. Experimental evidence associates amino acid substitutions of the frataxin to Friedreich Ataxia, a neurodegenerative disorder. Recently, new ther...

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Publicado en:Hum Mutat
Main Authors: Savojardo, Castrense, Petrosino, Maria, Babbi, Giulia, Bovo, Samuele, Corbi-Verge, Carles, Casadio, Rita, Fariselli, Piero, Folkman, Lukas, Garg, Aditi, Karimi, Mostafa, Katsonis, Panagiotis, Kim, Philip M., Lichtarge, Olivier, Martelli, Pier Luigi, Pasquo, Alessandra, Pal, Debnath, Shen, Yang, Strokach, Alexey V., Turina, Paola, Zhou, Yaoqi, Andreoletti, Gaia, Brenner, Steven, Chiaraluce, Roberta, Consalvi, Valerio, Capriotti, Emidio
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744327/
https://ncbi.nlm.nih.gov/pubmed/31209948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23843
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