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Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

Lookup NU author(s): Dr Juliane Mueller, Dr Michele Giunta, Professor Rita Horvath



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.

Publication metadata

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


DOI: 10.3233/JND-150086


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