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Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

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Original languageEnglish
Article number425
JournalBiomedicines
Volume10
Issue number2
Early online date11 Feb 2022
DOIs
E-pub ahead of print11 Feb 2022
Published11 Feb 2022

King's Authors

Abstract

Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under stress condition as well as factors to explain protein stabilization and the mechanisms behind unfolding. In this review, we explore the paradigmatic example of frataxin, an iron binding protein involved in Fe−S cluster biogenesis, and whose impairment causes a neurodegenerative disease called Friedreich’s Ataxia (FRDA). We summarize what is known about most common point mutations identified so far in heterozygous FRDA patients, their effects on frataxin structure and function and the consequences of its binding with partners.

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