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Special Issue "Molecular Research on Rett Syndrome and Related Disorders"

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: 28 May 2021.

Special Issue Editor

Dr. Maria J. Diogenes
E-Mail Website
Guest Editor
Instituto de Farmacologia e Neurociências, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal and Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
Interests: Rett syndrome; epilepsy; BDNF; neurotrophins; adenosine

Special Issue Information

Dear Colleagues,

Rett Syndrome (RTT) is a serious lifelong neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2; OMI#300005). However, many atypical cases of Rett syndrome have been associated with mutations in other genes, such as the X-linked cyclin-dependent kinase-like 5 (CDKL5; OMIM #300203) or the Forkhead box G1 (FOXG1; OMIM #164874). In addition, in recent years, more genes have been related to the RTT-like phenotype, and some of these genes have also been identified as causative for atypical RTT or RTT-like phenotype in the patients.

To date, there has been a lack of therapeutic strategies to help these patients, and it is crucial to shed light on the many unknown aspects of these disorders. Therefore, this Special Issue provides a forum for the publication of top-quality research papers on molecular and cellular mechanisms underlying Rett syndrome and related disorders, the neural systems and underpinning behavioral-associated features and findings relevant to the development of new therapies.

Dr. Maria J. Diogenes
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 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.

Keywords

  • Rett syndrome
  • atypical Rett
  • epileptic encephalopathies
  • neurodelopmental disorders
  • MECP2
  • FOXG1
  • CDKL5

Published Papers (2 papers)

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Research

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Open AccessArticle
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome
Int. J. Mol. Sci. 2021, 22(9), 4316; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22094316 - 21 Apr 2021
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Abstract
Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes, specifically in the central nervous system. Several studies have functionally linked the loss of [...] Read more.
Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes, specifically in the central nervous system. Several studies have functionally linked the loss of MECP2 in astrocytes to the appearance and progression of the RTT phenotype in a non-cell autonomous manner and mechanisms are still unknown. Here, we used primary astroglial cells from Mecp2-deficient (KO) pups to identify deregulated secreted proteins. Using a differential quantitative proteomic analysis, twenty-nine proteins have been identified and four were confirmed by Western blotting with new samples as significantly deregulated. To further verify the functional relevance of these proteins in RTT, we tested their effects on the dendritic morphology of primary cortical neurons from Mecp2 KO mice that are known to display shorter dendritic processes. Using Sholl analysis, we found that incubation with Lcn2 or Lgals3 for 48 h was able to significantly increase the dendritic arborization of Mecp2 KO neurons. To our knowledge, this study, through secretomic analysis, is the first to identify astroglial secreted proteins involved in the neuronal RTT phenotype in vitro, which could open new therapeutic avenues for the treatment of Rett syndrome. Full article
(This article belongs to the Special Issue Molecular Research on Rett Syndrome and Related Disorders)
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Review

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Open AccessReview
Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives
Int. J. Mol. Sci. 2021, 22(7), 3751; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22073751 - 03 Apr 2021
Viewed by 754
Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Among many different roles, MeCP2 has a high phenotypic impact during the different stages of brain development. Thus, it is essential to intensively investigate [...] Read more.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Among many different roles, MeCP2 has a high phenotypic impact during the different stages of brain development. Thus, it is essential to intensively investigate the function of MeCP2, and its regulated targets, to better understand the mechanisms of the disease and inspire the development of possible therapeutic strategies. Several animal models have greatly contributed to these studies, but more recently human pluripotent stem cells (hPSCs) have been providing a promising alternative for the study of RTT. The rapid evolution in the field of hPSC culture allowed first the development of 2D-based neuronal differentiation protocols, and more recently the generation of 3D human brain organoid models, a more complex approach that better recapitulates human neurodevelopment in vitro. Modeling RTT using these culture platforms, either with patient-specific human induced pluripotent stem cells (hiPSCs) or genetically-modified hPSCs, has certainly contributed to a better understanding of the onset of RTT and the disease phenotype, ultimately allowing the development of high throughput drugs screening tests for potential clinical translation. In this review, we first provide a brief summary of the main neurological features of RTT and the impact of MeCP2 mutations in the neuropathophysiology of this disease. Then, we provide a thorough revision of the more recent advances and future prospects of RTT modeling with human neural cells derived from hPSCs, obtained using both 2D and organoids culture systems, and its contribution for the current and future clinical trials for RTT. Full article
(This article belongs to the Special Issue Molecular Research on Rett Syndrome and Related Disorders)
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