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Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327864/ https://www.ncbi.nlm.nih.gov/pubmed/30018047 http://dx.doi.org/10.1136/jnnp-2018-318834 |
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author | Juneja, Manisha Burns, Joshua Saporta, Mario A Timmerman, Vincent |
author_facet | Juneja, Manisha Burns, Joshua Saporta, Mario A Timmerman, Vincent |
author_sort | Juneja, Manisha |
collection | PubMed |
description | Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies. |
format | Online Article Text |
id | pubmed-6327864 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-63278642019-01-25 Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development Juneja, Manisha Burns, Joshua Saporta, Mario A Timmerman, Vincent J Neurol Neurosurg Psychiatry Neurogenetics Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques. Nevertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, there is no cure for CMT at present. This review will shed light on the exciting advancement in CMT disease modelling, the breakthroughs, pitfalls, current challenges for scientists and key considerations to move the field forward towards successful therapies. BMJ Publishing Group 2019-01 2018-07-17 /pmc/articles/PMC6327864/ /pubmed/30018047 http://dx.doi.org/10.1136/jnnp-2018-318834 Text en © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
spellingShingle | Neurogenetics Juneja, Manisha Burns, Joshua Saporta, Mario A Timmerman, Vincent Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title | Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title_full | Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title_fullStr | Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title_full_unstemmed | Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title_short | Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development |
title_sort | challenges in modelling the charcot-marie-tooth neuropathies for therapy development |
topic | Neurogenetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327864/ https://www.ncbi.nlm.nih.gov/pubmed/30018047 http://dx.doi.org/10.1136/jnnp-2018-318834 |
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