On the linkage of thermodynamics and pathogenicity.
Journal
Current opinion in structural biology
ISSN: 1879-033X
Titre abrégé: Curr Opin Struct Biol
Pays: England
ID NLM: 9107784
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
25
01
2023
revised:
16
02
2023
accepted:
21
02
2023
pmc-release:
01
06
2024
medline:
5
6
2023
pubmed:
26
3
2023
entrez:
25
3
2023
Statut:
ppublish
Résumé
This review outlines the effect of disease-causing mutations on proteins' thermodynamics. Two major thermodynamics quantities, which are essential for structural integrity, the folding and binding free energy changes caused by missense mutations, are considered. It is emphasized that disease effects in case of complex diseases may originate from several mutations over several genes, while monogenic diseases are caused by mutation is a single gene. Nevertheless, in both cases it is shown that pathogenic mutations cause larger perturbations of the above-mentioned thermodynamics quantities as compared with the benign mutations. Recent works demonstrating the effect of pathogenic mutations on the above-mentioned thermodynamics quantities, as well as on structural dynamics and allosteric pathways, are reviewed.
Identifiants
pubmed: 36965249
pii: S0959-440X(23)00046-5
doi: 10.1016/j.sbi.2023.102572
pmc: PMC10239362
mid: NIHMS1887383
pii:
doi:
Substances chimiques
Proteins
0
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
102572Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM093937
Pays : United States
Informations de copyright
Published by Elsevier Ltd.
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