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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Pubblicato in:Hum Mutat
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online: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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