Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
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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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Exosome, RNA degradation, hypomyelination, pontocerebellar hypoplasia, spinal muscular atrophy
Journal Title
J Neuromuscul Dis
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2214-3599
2214-3602
2214-3602
Volume Title
2
Publisher
IOS Press