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Special Issue "Molecular Mechanism Underlying Rare Inherited Neurological Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 November 2021.

Special Issue Editors

Dr. Agnieszka Ługowska
E-Mail Website1 Website2
Guest Editor
Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland
Interests: molecular and biochemical bases of lysosomal diseases; epidemiology of lysosomal diseases; development of novel diagnostic procedure; monitoring of treatment efficacy; biomarkers
Special Issues and Collections in MDPI journals
Prof. Dr. Johannes Berger
E-Mail Website1 Website2 Website3
Guest Editor
Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna; Vienna, Austria
Interests: peroxisomes; adrenoleukodystrophy; plasmalogens; ether-lipids; lipids in Alzheimer’s disease; peroxisomes in Alzheimer’s disease; adrenomyeloneuropathy; ABCD1; brain inflammation

Special Issue Information

Dear Colleagues,

A disease is considered rare when it affects less than one person in 2000 live births. Currently, about 6000 rare diseases are distinguished, but the awareness of medical and general society is still insufficient. Among these diseases are genetically inherited diseases related to various disorders of the nervous system. The molecular mechanisms underlying these diseases are differential. Some of them have a metabolic basis, such as lysosomal diseases, peroxisomal diseases, mitochondrial diseases, other metabolic leukodystrophies, disorders of metal metabolism, disturbances of vitamin metabolism, disturbances of neurotransmitter metabolism and many others. There is also a huge group of monogenic neurodegenerative and neuromuscular diseases. Recently, studies on oxidative stress and immune system response have displayed a great role in elucidating the bases of neurological diseases.

Due to often irreversible changes in the nervous system, therapies should be implemented at the very early stages of a disease. This leads to a demand for the development of reliable diagnostic methods to improve the efficacy of treatment.

In this Special Issue, we want to present the latest scientific achievements in the research on rare, genetically determined diseases that affect the nervous system. These studies are broad in nature and cover both molecular and cellular aspects. We focus on studies related to the explanation of pathomechanisms, diagnostics, those searching for new targeted treatment strategies and new biomarkers for the detection of patients, and the use of new research techniques.

Both original and review articles or communications providing new insights into the subject are welcomed.

Dr. Agnieszka Ługowska
Prof. Dr. Johannes Berger
Guest Editors

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 papers will be 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.


  • rare genetic diseases;
  • inherited metabolic diseases;
  • translational research;
  • proteomic research;
  • novel therapies for genetic metabolic diseases;
  • pathogenesis of disease;
  • molecular background of genetic diseases;
  • biochemical background of genetic diseases;
  • new approaches in research and diagnosis

Published Papers (1 paper)

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Open AccessArticle
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
Int. J. Mol. Sci. 2021, 22(8), 4154; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22084154 - 16 Apr 2021
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It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of various antisense-based splice-modulating approaches, pathogenic splicing variants [...] Read more.
It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of various antisense-based splice-modulating approaches, pathogenic splicing variants have become an important object of genomic medicine. To improve the accuracy of variant interpretation in public mutation repositories, we applied the minigene splicing assay to study the effects of 24 variants that were predicted to affect normal splicing in the genes associated with propionic acidemia (PA)—PCCA and PCCB. As a result, 13 variants (including one missense and two synonymous variants) demonstrated a significant alteration of splicing with the predicted deleterious effect at the protein level and were characterized as spliceogenic loss-of-function variants. The analysis of the available data for the studied variants and application of the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) guidelines allowed us to precisely classify five of the variants and change the pathogenic status of nine. Using the example of the PA genes, we demonstrated the utility of the minigene splicing assay in the fast and effective assessment of the spliceogenic effect for identified variants and highlight the necessity of their standardized classification. Full article
(This article belongs to the Special Issue Molecular Mechanism Underlying Rare Inherited Neurological Diseases)
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