Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.

Conformational states FMRP pathological mutation Fragile X syndrome KH domain Structural dynamics

Journal

Biochimica et biophysica acta. Proteins and proteomics
ISSN: 1878-1454
Titre abrégé: Biochim Biophys Acta Proteins Proteom
Pays: Netherlands
ID NLM: 101731734

Informations de publication

Date de publication:
17 Apr 2024
Historique:
received: 02 02 2024
revised: 26 03 2024
accepted: 14 04 2024
medline: 20 4 2024
pubmed: 20 4 2024
entrez: 19 4 2024
Statut: aheadofprint

Résumé

The Fragile X messenger ribonucleoprotein (FMRP) is a complex, multi-domain protein involved in interactions with various macromolecules, including proteins and coding/non-coding RNAs. The three KH domains (KH0, KH1 and KH2) within FMRP are recognized for their roles in mRNA binding. In the context of Fragile X syndrome (FXS), over-and-above CGG triplet repeats expansion, three specific point mutations have been identified, each affecting one of the three KH domains (

Identifiants

DOI: 10.1016/j.bbapap.2024.141019 PMID: 38641086
pubmed: 38641086
pii: S1570-9639(24)00026-8
doi: 10.1016/j.bbapap.2024.141019
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

141019

Informations de copyright

Copyright © 2024. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Flavia Catalano (F)

Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Daniele Santorelli (D)

Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Alessandra Astegno (A)

Department of Biotechnology, University of Verona, Strada Le Grazie 15, Verona 37134, Italy.

Filippo Favaretto (F)

Department of Biotechnology, University of Verona, Strada Le Grazie 15, Verona 37134, Italy.

Marco D'Abramo (M)

Department of Chemistry, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Alessandra Del Giudice (A)

Department of Chemistry, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Maria Laura De Sciscio (ML)

Department of Chemistry, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Francesca Troilo (F)

CNR Institute of Molecular Biology and Pathology, P.le Aldo Moro 5, Rome 00185, Italy.

Giorgio Giardina (G)

Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy.

Adele Di Matteo (A)

CNR Institute of Molecular Biology and Pathology, P.le Aldo Moro 5, Rome 00185, Italy. Electronic address: adele.dimatteo@cnr.it.

Carlo Travaglini-Allocatelli (C)

Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, Rome 00185, Italy. Electronic address: carlo.travaglini@uniroma1.it.

Classifications MeSH