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Special Issue "Molecular and Cellular Basis for Rare Genetic Diseases"
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Cellular Biochemistry".
Deadline for manuscript submissions: 20 July 2023 | Viewed by 3207
Special Issue Editors
Interests: membrane trafficking; LDL-R family; cell polarity; endocytosis; sorting nexins; sorting signals
Interests: rare diseases; developmental disorders; development; stem cells; protein posttranslational modification; ubiquitin system; phosphorylation
Special Issue Information
Early-onset cognitive impairment, also known as intellectual disability, has a prevalence of close to 2% and constitutes a healthcare problem worldwide. Among early-onset intellectual disabilities, around 10% are associated with X-linked genes. Chromosomal rearrangements explain 30% (i.e., deletions, duplications, inversions, structural variants), and an undetermined proportion of these have no known causes. Of the less-known forms of cognitive impairment are the autosomal-recessive forms. In many cases, affected genes directly impact central nervous system (CNS) development and function; although these gene products are present in several tissues, some are also affected.
Rare genetic diseases have a very low prevalence. However, most of them affect children's CNS. From this point of view, they represent an opportunity to understand at the organism, cellular and molecular level the functioning and regulation of vital mechanisms and pathways underlying the development and function of the nervous system. In order to generate information about these diseases, the development of different approaches and experimental models is relevant. Considering this knowledge, therapeutic options can be envisioned for the affected children.
The Special Issue, “Molecular and Cellular Basis for Rare Genetic Diseases”, will accept submissions based on cell and molecular biology, systems biology, genetically modified mice, and other animal models, including flies and worms. We welcome the submission of both review articles and original research papers contributing significantly to our understanding of the biological processes involved in these diseases.
Dr. María-Paz Marzolo
Dr. Francisco Bustos
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. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2300 CHF (Swiss Francs). 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.
- intellectual disability
- rare genetic diseases
- systems biology
- membrane trafficking
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: To be determined
Authors: Clara D. M. van Karnebeek; et al.
Affiliation: University of Amsterdam, 1012 WX Amsterdam, The Netherlands