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Lookup NU author(s): Dr Juliane Mueller, Dr Michele GiuntaORCiD, Professor Rita HorvathORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
© 2015 - IOS Press and the authors. All rights reserved.Defects of RNA metabolism have been increasingly identified in various forms of inherited neurological diseases. Recently, abnormal RNA degradation due to mutations in human exosome subunit genes has been shown to cause complex childhood onset neurological presentations including spinal muscular atrophy, pontocerebellar hypoplasia and myelination deficiencies. This paper summarizes our current knowledge about the exosome in human neurological disease and provides some important insights into potential disease mechanisms.
Author(s): Muller JS, Giunta M, Horvath R
Publication type: Article
Publication status: Published
Journal: Journal of Neuromuscular Diseases
Year: 2015
Volume: 2
Pages: S31-S37
Print publication date: 01/01/2015
Acceptance date: 01/01/1900
Date deposited: 13/06/2018
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
URL: https://doi.org/10.3233/JND-150086
DOI: 10.3233/JND-150086
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