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Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy 2.0
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Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy 2.0

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: closed (31 August 2021) | Viewed by 18998

Special Issue Editor

Prof. Dr. Michel Fontés

E-Mail Website
Guest Editor
Obesity and Risk of Thrombosis Laboratory, Aix Marseille Universite, Marseille, France
Interests: peripheral neuropathies; animal models; drug development; pathophysiology of inherited disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Charcot–Marie–Tooth disease (CMT) is the most frequent inherited disorder affecting the peripheral nervous system. For many years, research on CMT was mainly focused on the description of the various clinical presentations of the disease, allowing classification of the various types of CMT. The last 20 years saw the emergence of translational research on CMT, including the creation of relevant animal models of the disease and the development of therapeutic approaches, leading to the first clinical trials. The purpose of this IJMS Special Issue on CMT is to collect the most relevant works on CMT. These include new mechanisms involved in the pathophysiology of different CMT forms, new animal or cellular models, new biochemical mechanisms opening new tracks for study and treatment, and new propositions of therapeutical development. Papers submitted to this Special Issue should (i) have clear novelty, (ii) open tracks for future translational research based on molecular research, and (iii) be supported by a strong rationale. Papers dealing with minor points concerning already-published research or with clinical data without molecular approaches will be returned without further review.

Prof. Dr. Michel Fontés
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

  • Charcot–Marie–Tooth
  • animal models
  • cellular models
  • molecular mechanisms
  • therapeutic development

Published Papers (3 papers)

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Research

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18 pages, 4161 KiB  
Article
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
by Katarzyna Binięda, Weronika Rzepnikowska, Damian Kolakowski, Joanna Kaminska, Andrzej Antoni Szczepankiewicz, Hanna Nieznańska, Andrzej Kochański and Dagmara Kabzińska
Int. J. Mol. Sci. 2021, 22(2), 914; https://doi.org/10.3390/ijms22020914 - 18 Jan 2021
Cited by 9 | Viewed by 2601
Abstract
Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease that displays great genetic heterogeneity. The genes and mutations that underlie this heterogeneity have been extensively characterized by molecular genetics. However, the molecular pathogenesis of the vast majority of CMT subtypes remains terra incognita. Any [...] Read more.
Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease that displays great genetic heterogeneity. The genes and mutations that underlie this heterogeneity have been extensively characterized by molecular genetics. However, the molecular pathogenesis of the vast majority of CMT subtypes remains terra incognita. Any attempts to perform experimental therapy for CMT disease are limited by a lack of understanding of the pathogenesis at a molecular level. In this study, we aim to identify the molecular pathways that are disturbed by mutations in the gene encoding GDAP1 using both yeast and human cell, based models of CMT-GDAP1 disease. We found that some mutations in GDAP1 led to a reduced expression of the GDAP1 protein and resulted in a selective disruption of the Golgi apparatus. These structural alterations are accompanied by functional disturbances within the Golgi. We screened over 1500 drugs that are available on the market using our yeast-based CMT-GDAP1 model. Drugs were identified that had both positive and negative effects on cell phenotypes. To the best of our knowledge, this study is the first report of the Golgi apparatus playing a role in the pathology of CMT disorders. The drugs we identified, using our yeast-based CMT-GDAP1 model, may be further used in translational research. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy 2.0)
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Review

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25 pages, 2091 KiB  
Review
Hereditary Spastic Paraplegia: An Update
by Arun Meyyazhagan and Antonio Orlacchio
Int. J. Mol. Sci. 2022, 23(3), 1697; https://doi.org/10.3390/ijms23031697 - 01 Feb 2022
Cited by 55 | Viewed by 12509
Abstract
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical [...] Read more.
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord’s lateral region, comprising the corticospinal routes. The prevalence ranges from 0.1 to 9.6 subjects per 100,000 reported around the globe. Though modern medical interventions help recognize and manage the disorder, the symptomatic measures remain below satisfaction. The present review assimilates the available data on HSP and lists down the chromosomes involved in its pathophysiology and the mutations observed in the respective genes on the chromosomes. It also sheds light on the treatment available along with the oral/intrathecal medications, physical therapies, and surgical interventions. Finally, we have discussed the related diagnostic techniques as well as the linked pharmacogenomics studies under future perspectives. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy 2.0)
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13 pages, 262 KiB  
Review
Therapeutic Development in Charcot Marie Tooth Type 1 Disease
by Pierre Miniou and Michel Fontes
Int. J. Mol. Sci. 2021, 22(13), 6755; https://doi.org/10.3390/ijms22136755 - 23 Jun 2021
Cited by 8 | Viewed by 3265
Abstract
Charcot–Marie–Tooth disease (CMT) is the most frequent hereditary peripheral neuropathies. It is subdivided in two main groups, demyelinating (CMT1) and axonal (CMT2). CMT1 forms are the most frequent. The goal of this review is to present published data on 1—cellular and animal models [...] Read more.
Charcot–Marie–Tooth disease (CMT) is the most frequent hereditary peripheral neuropathies. It is subdivided in two main groups, demyelinating (CMT1) and axonal (CMT2). CMT1 forms are the most frequent. The goal of this review is to present published data on 1—cellular and animal models having opened new potential therapeutic approaches. 2—exploration of these tracks, including clinical trials. The first conclusion is the great increase of publications on CMT1 subtypes since 2000. We discussed two points that should be considered in the therapeutic development toward a regulatory-approved therapy to be proposed to patients. The first point concerns long term safety if treatments will be a long-term process. The second point relates to the evaluation of treatment efficiency. Degradation of CMT clinical phenotype is not linear and progressive. Full article
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy 2.0)
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