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

Published version
Peer-reviewed

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Type

Article

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Authors

Müller, Juliane S 
Giunta, Michele 

Abstract

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.

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Keywords

Exosome, RNA degradation, hypomyelination, pontocerebellar hypoplasia, spinal muscular atrophy

Journal Title

J Neuromuscul Dis

Conference Name

Journal ISSN

2214-3599
2214-3602

Volume Title

2

Publisher

IOS Press