Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.1
4.9
Journals
IJMS
Special Issues
Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 April 2025 | Viewed by 1444

Special Issue Editor

Dr. Maria Arnedo

E-Mail Website
Guest Editor
Department of Pharmacology, Physiology and Legal Medicine and Forensic, University of Zaragoza, E-50009 Zaragoza, Spain
Interests: ketone body; metabolic disease; genetic disease; HMG-CoA lyase; HMG-CoA synthase

Special Issue Information

Dear Colleagues,

Rare genetic diseases are involved in a wide range of medical conditions, from innate metabolic errors to neurodegenerative diseases. In recent years, the huge increase in sequencing techniques has enabled the diagnosis of more rare genetic diseases than in the previous 50 years. This, together the enormous development of genetic engineering and molecular biology techniques, has opened up the possibility of improving the quality of life of these patients or even curing the diseases by applying the more recent scientific procedures.

This International Journal of Molecular Sciences Special Issue, entitled “Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies”, will collect reviews and original manuscripts about the latest research data regarding the advances in the molecular diagnosis, treatment, and therapy of rare genetic diseases. The scope ranges from recent advances in diagnosis techniques to the novel therapeutic strategies applied to these diseases. Furthermore, studies on the relationship between the molecular mechanism and the clinical complications of the disease are also welcomed.

We invite suggestions for manuscripts to be included in this Special Issue. Please contact the editors before preparing the manuscript to pre-arrange the topic.

Dr. Maria Arnedo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare genetic disease
  • innate metabolic errors
  • neurodegenerative diseases
  • therapeutic
  • molecular diagnosis

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

14 pages, 2117 KiB  
Article
Defects in the Maturation of Mitochondrial Iron–Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57
by Beatrice Bargagna, Tommaso Staderini, Steven H. Lang, Lucia Banci and Francesca Camponeschi
Int. J. Mol. Sci. 2024, 25(19), 10466; https://doi.org/10.3390/ijms251910466 - 28 Sep 2024
Viewed by 714
Abstract
Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is a rare autosomal recessive mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in the IBA57 gene. The gene protein product, IBA57, has an unknown role in iron–sulfur (Fe-S) cluster biogenesis but is required for the maturation [...] Read more.
Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is a rare autosomal recessive mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in the IBA57 gene. The gene protein product, IBA57, has an unknown role in iron–sulfur (Fe-S) cluster biogenesis but is required for the maturation of mitochondrial [4Fe-4S] proteins. To better understand the role of IBA57 in MMDS3, we have investigated the impact of the pathogenic p.Gly104Cys (c.310G > T) variant on the structural and functional properties of IBA57. The Gly104Cys variant has been associated with a severe MMDS3 phenotype in both compound heterozygous and homozygous states, and defects in the activity of mitochondrial respiratory complexes and lipoic acid-dependent enzymes have been demonstrated in the affected patients. Size exclusion chromatography, also coupled to multiple angle light scattering, NMR, circular dichroism, and fluorescence spectroscopy characterization has shown that the Gly104Cys variant does not impair the conversion of the homo-dimeric [2Fe-2S]–ISCA22 complex into the hetero-dimeric IBA57–[2Fe-2S]–ISCA2 but significantly affects the stability of IBA57, in both its isolated form and in complex with ISCA2, thus providing a rationale for the severe MMDS3 phenotype associated with this variant. Full article
(This article belongs to the Special Issue Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies)
►▼ Show Figures

Figure 1

Review

Jump to: Research

28 pages, 2534 KiB  
Review
NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models
by Roshan Tumdam, Yara Hussein, Tali Garin-Shkolnik and Shani Stern
Int. J. Mol. Sci. 2024, 25(22), 12366; https://doi.org/10.3390/ijms252212366 - 18 Nov 2024
Viewed by 401
Abstract
N-methyl-D-aspartate receptors (NMDARs) are critical components of the mammalian central nervous system, involved in synaptic transmission, plasticity, and neurodevelopment. This review focuses on the structural and functional characteristics of NMDARs, with a particular emphasis on the GRIN2 subunits (GluN2A-D). The diversity of GRIN2 [...] Read more.
N-methyl-D-aspartate receptors (NMDARs) are critical components of the mammalian central nervous system, involved in synaptic transmission, plasticity, and neurodevelopment. This review focuses on the structural and functional characteristics of NMDARs, with a particular emphasis on the GRIN2 subunits (GluN2A-D). The diversity of GRIN2 subunits, driven by alternative splicing and genetic variants, significantly impacts receptor function, synaptic localization, and disease manifestation. The temporal and spatial expression of these subunits is essential for typical neural development, with each subunit supporting distinct phases of synaptic formation and plasticity. Disruptions in their developmental regulation are linked to neurodevelopmental disorders, underscoring the importance of understanding these dynamics in NDD pathophysiology. We explore the physiological properties and developmental regulation of these subunits, highlighting their roles in the pathophysiology of various NDDs, including ASD, epilepsy, and schizophrenia. By reviewing current knowledge and experimental models, including mouse models and human-induced pluripotent stem cells (hiPSCs), this article aims to elucidate different approaches through which the intricacies of NMDAR dysfunction in NDDs are currently being explored. The comprehensive understanding of NMDAR subunit composition and their mutations provides a foundation for developing targeted therapeutic strategies to address these complex disorders. Full article
(This article belongs to the Special Issue Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop