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Special Issue "Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II)"

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: 30 September 2019

Special Issue Editors

Guest Editor
Prof. Dr. Maria Vittoria Cubellis

Dipartimento di Biologia, Università Federico II, Napoli, 80126, Italy
Website | E-Mail
Interests: protein stability; bioinformatics; PMM2-CDG; Fabry disease; pharmacological chaperones
Guest Editor
Prof. Lidia Larizza

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
Website | E-Mail
Phone: +39-02 619113041
Fax: +39-02 619112464
Interests: rare disorders of chromatin regulators; Rubinstein-Taybi and related syndromes of the epigenetic machinery; chromosomal/genomic instability syndromes with cancer predisposition; imprinting disorders affecting growth; neurodevelopmental imprinting disorders; genomic disorders; MARK4 gene; c-kit gene

Special Issue Information

Dear Colleagues,

A rare disease is any disease that affects a small percentage of the population. The quantification of “small” is variable, and represents an artificial border that will necessarily change with the diffusion of genetic screenings. More than 5000 rare diseases have been described. Non-sense mutations, deletions, and insertions abolish the function of the affected proteins, but mis-sense mutations have variable effects that go from complete inactivation to a mild reduction of activity. At present, more than 70,000 mis-sense mutations have been reported. Taken together, these findings imply that there are different genotypes and phenotypes for any given disease. Bare figures give a flavor of the great challenge represented by rare diseases in terms of both diagnosis and therapy.

We seek papers that look into rare diseases with a genetic, biochemical, or bioinformatic approach. Papers addressing specific pharmacological therapies for rare diseases are especially welcome.

Prof. Maria Vittoria Cubellis
Prof. Lidia Larizza
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. The Article Processing Charge (APC) for publication in this open access journal is 1800 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.

Keywords

  • rare diseases
  • genetic diseases, inborn
  • diagnosis
  • mutations
  • epigenetics
  • drugs
  • molecular chaperones
  • drug repositioning
  • bioinformatics
  • integrated omics approaches
  • precision medicine

Related Special Issue

Published Papers (2 papers)

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Research

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Open AccessArticle
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles
Int. J. Mol. Sci. 2019, 20(8), 2014; https://doi.org/10.3390/ijms20082014
Received: 22 March 2019 / Revised: 17 April 2019 / Accepted: 19 April 2019 / Published: 24 April 2019
PDF Full-text (8317 KB) | HTML Full-text | XML Full-text | Supplementary Files
Abstract
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the enzyme iduronate 2-sulfatase (IDS), which leads to the accumulation of glycosaminoglycans in most organ-systems, including the brain, and resulting in neurological involvement in about two-thirds of the patients. [...] Read more.
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the enzyme iduronate 2-sulfatase (IDS), which leads to the accumulation of glycosaminoglycans in most organ-systems, including the brain, and resulting in neurological involvement in about two-thirds of the patients. The main treatment is represented by a weekly infusion of the functional enzyme, which cannot cross the blood-brain barrier and reach the central nervous system. In this study, a tailored nanomedicine approach based on brain-targeted polymeric nanoparticles (g7-NPs), loaded with the therapeutic enzyme, was exploited. Fibroblasts from MPSII patients were treated for 7 days with NPs loaded with the IDS enzyme; an induced IDS activity like the one detected in healthy cells was measured, together with a reduction of GAG content to non-pathological levels. An in vivo short-term study in MPSII mice was performed by weekly administration of g7-NPs-IDS. Biochemical, histological, and immunohistochemical evaluations of liver and brain were performed. The 6-weeks treatment produced a significant reduction of GAG deposits in liver and brain tissues, as well as a reduction of some neurological and inflammatory markers (i.e., LAMP2, CD68, GFAP), highlighting a general improvement of the brain pathology. The g7-NPs-IDS approach allowed a brain-targeted enzyme replacement therapy. Based on these positive results, the future aim will be to optimize NP formulation further to gain a higher efficacy of the proposed approach. Full article
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II))
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Review

Jump to: Research

Open AccessReview
B Cells and Antibodies in Kawasaki Disease
Int. J. Mol. Sci. 2019, 20(8), 1834; https://doi.org/10.3390/ijms20081834
Received: 19 March 2019 / Revised: 9 April 2019 / Accepted: 11 April 2019 / Published: 13 April 2019
PDF Full-text (264 KB) | HTML Full-text | XML Full-text
Abstract
The etiology of Kawasaki disease (KD), the leading cause of acquired heart disease in children, is currently unknown. Epidemiology supports a relationship of KD to an infectious disease. Several pathological mechanisms are being considered, including a superantigen response, direct invasion by an infectious [...] Read more.
The etiology of Kawasaki disease (KD), the leading cause of acquired heart disease in children, is currently unknown. Epidemiology supports a relationship of KD to an infectious disease. Several pathological mechanisms are being considered, including a superantigen response, direct invasion by an infectious etiology or an autoimmune phenomenon. Treating affected patients with intravenous immunoglobulin is effective at reducing the rates of coronary aneurysms. However, the role of B cells and antibodies in KD pathogenesis remains unclear. Murine models are not clear on the role for B cells and antibodies in pathogenesis. Studies on rare aneurysm specimens reveal plasma cell infiltrates. Antibodies generated from these aneurysmal plasma cell infiltrates showed cross-reaction to intracellular inclusions in the bronchial epithelium of a number of pathologic specimens from children with KD. These antibodies have not defined an etiology. Notably, a number of autoantibody responses have been reported in children with KD. Recent studies show acute B cell responses are similar in children with KD compared to children with infections, lending further support of an infectious disease cause of KD. Here, we will review and discuss the inconsistencies in the literature in relation to B cell responses, specific antibodies, and a potential role for humoral immunity in KD pathogenesis or diagnosis. Full article
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II))

Planned Papers

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.

Draft Title: Beckwith-Wiedemann and Silver-Russell syndromes: model diseases for opposite alterations causing opposite phenotypes
Authors: Thomas Eggermann, Carla Eßinger, Kathrin Wesseler et al.

 

Title: A review regarding the repositioning of drugs for Duchenne muscular dystrophy
Authors: Marcella Canton et al.

 

Title: A review article on ATM and its role in the heart
Authors: Krishna Singh, et al.

 

Title:  Pharmacological role of cannabinoids in severe rare form of epilepsy and muscular dystrophies
Authors: Fabio A. Iannotti, et al. 

Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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