All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Feature papers represent the most advanced research with significant potential for high impact in the field. A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications.
Feature papers are submitted upon individual invitation or recommendation by the scientific editors and must receive positive feedback from the reviewers.
Editor’s Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. Editors select a small number of articles recently published in the journal that they believe will be particularly interesting to readers, or important in the respective research area. The aim is to provide a snapshot of some of the most exciting work published in the various research areas of the journal.
Original Submission Date Received: .
- Journals
-
- Active Journals
- Find a Journal
- Proceedings Series
-
- Topics
- Information
-
- For Authors
- For Reviewers
- For Editors
- For Librarians
- For Publishers
- For Societies
- For Conference Organizers
- Open Access Policy
- Institutional Open Access Program
- Special Issues Guidelines
- Editorial Process
- Research and Publication Ethics
- Article Processing Charges
- Awards
- Testimonials
-
- Author Services
- Initiatives
-
- Sciforum
- MDPI Books
- Preprints.org
- Scilit
- SciProfiles
- Encyclopedia
- JAMS
- Proceedings Series
-
- About
-
- Overview
- Contact
- Careers
- News
- Press
- Blog
-
Sign In / Sign Up Submit
Journals
IJMS
Volume 25
Issue 13
10.3390/ijms25136953
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu
Article Menu
- Academic Editor
Alexandre G. De Brevern
- Subscribe SciFeed
- Related Info Link
- More by Authors Links
- Table of Contents
announcement Help format_quote Cite question_answer Discuss in SciProfiles
thumb_up ... Endorse textsms ... Comment
Need Help?
Support
Find support for a specific problem in the support section of our website.
Get Support
Feedback
Please let us know what you think of our products and services.
Give Feedback
Information
Visit our dedicated information section to learn more about MDPI.
Get Information
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Open AccessCommunication
by Anna Visibelli SciProfiles Scilit Preprints.org Google Scholar Rebecca Finetti SciProfiles Scilit Preprints.org Google Scholar Neri Niccolai SciProfiles Scilit Preprints.org Google Scholar Ottavia Spiga SciProfiles Scilit Preprints.org Google Scholar Annalisa Santucci SciProfiles Scilit Preprints.org Google Scholar 
Anna Visibelli
, Rebecca Finetti, Neri NiccolaiOttavia Spiga and Annalisa Santucci
1
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy
2
Le Ricerche del BarLume Free Association, Ville di Corsano, 53014 Monteroni d’Arbia, Italy
3
Industry 4.0 Competence Center ARTES 4.0, Viale Rinaldo Piaggio, 56025 Pontedera, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(13), 6953; https://doi.org/10.3390/ijms25136953
Submission received: 28 March 2024 / Revised: 11 June 2024 / Accepted: 21 June 2024 / Published: 25 June 2024
(This article belongs to the Special Issue Application and Latest Progress of Bioinformatics in Drug Discovery)
Download PDF
Download Supplementary Material
Browse Figure
VersionsNotes
Abstract
The study of rare diseases is important not only for the individuals affected but also for the advancement of medical knowledge and a deeper understanding of human biology and genetics. The wide repertoire of structural information now available from reliable and accurate prediction methods provides the opportunity to investigate the molecular origins of most of the rare diseases reviewed in the Orpha.net database. Thus, it has been possible to analyze the topology of the pathogenic missense variants found in the 2515 proteins involved in Mendelian rare diseases (MRDs), which form the database for our structural bioinformatics study. The amino acid substitutions responsible for MRDs showed different mutation site distributions at different three-dimensional protein depths. We then highlighted the depth-dependent effects of pathogenic variants for the 20,061 pathogenic variants that are present in our database. The results of this structural bioinformatics investigation are relevant, as they provide additional clues to mitigate the damage caused by MRD.
Keywords: rare diseases; missense pathogenic variants; protein structure; databank analysis; structural bioinformatics
Graphical Abstract
Share and Cite
MDPI and ACS Style
Visibelli, A.; Finetti, R.; Niccolai, N.; Spiga, O.; Santucci, A. Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation. Int. J. Mol. Sci. 2024, 25, 6953. https://doi.org/10.3390/ijms25136953
AMA Style
Visibelli A, Finetti R, Niccolai N, Spiga O, Santucci A. Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation. International Journal of Molecular Sciences. 2024; 25(13):6953. https://doi.org/10.3390/ijms25136953
Chicago/Turabian Style
Visibelli, Anna, Rebecca Finetti, Neri Niccolai, Ottavia Spiga, and Annalisa Santucci. 2024. "Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation" International Journal of Molecular Sciences 25, no. 13: 6953. https://doi.org/10.3390/ijms25136953
Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.
Article Metrics
Cite
Export citation file: BibTeX | EndNote | RIS
MDPI and ACS Style
Visibelli, A.; Finetti, R.; Niccolai, N.; Spiga, O.; Santucci, A. Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation. Int. J. Mol. Sci. 2024, 25, 6953. https://doi.org/10.3390/ijms25136953
AMA Style
Visibelli A, Finetti R, Niccolai N, Spiga O, Santucci A. Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation. International Journal of Molecular Sciences. 2024; 25(13):6953. https://doi.org/10.3390/ijms25136953
Chicago/Turabian Style
Visibelli, Anna, Rebecca Finetti, Neri Niccolai, Ottavia Spiga, and Annalisa Santucci. 2024. "Molecular Origins of the Mendelian Rare Diseases Reviewed by Orpha.net: A Structural Bioinformatics Investigation" International Journal of Molecular Sciences 25, no. 13: 6953. https://doi.org/10.3390/ijms25136953
Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.
Int. J. Mol. Sci., EISSN 1422-0067, Published by MDPI
RSS Content Alert
Further Information
Article Processing Charges Pay an Invoice Open Access Policy Contact MDPI Jobs at MDPI
Guidelines
For Authors For Reviewers For Editors For Librarians For Publishers For Societies For Conference Organizers
MDPI Initiatives
Sciforum MDPI Books Preprints.org Scilit SciProfiles Encyclopedia JAMS Proceedings Series
© 1996-2024 MDPI (Basel, Switzerland) unless otherwise stated
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content.
Terms and Conditions Privacy Policy
