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Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin
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...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962269/ https://www.ncbi.nlm.nih.gov/pubmed/35203634 http://dx.doi.org/10.3390/biomedicines10020425 |
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author | Puglisi, Rita |
author_facet | Puglisi, Rita |
author_sort | Puglisi, Rita |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8962269 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-89622692022-03-30 Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin Puglisi, Rita Biomedicines Review 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. MDPI 2022-02-11 /pmc/articles/PMC8962269/ /pubmed/35203634 http://dx.doi.org/10.3390/biomedicines10020425 Text en © 2022 by the author. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Puglisi, Rita Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title | Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title_full | Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title_fullStr | Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title_full_unstemmed | Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title_short | Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin |
title_sort | protein mutations and stability, a link with disease: the case study of frataxin |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962269/ https://www.ncbi.nlm.nih.gov/pubmed/35203634 http://dx.doi.org/10.3390/biomedicines10020425 |
work_keys_str_mv | AT puglisirita proteinmutationsandstabilityalinkwithdiseasethecasestudyoffrataxin |