title: Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
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.
authors.affiliation: Institute of Genetic Medicine, The John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Juliane S
authors.initials: JS
authors.lastname: Müller
authors.affiliation: Institute of Genetic Medicine, The John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Michele
authors.initials: M
authors.lastname: Giunta
authors.affiliation: Institute of Genetic Medicine, The John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
keywords: Exosome; RNA degradation; hypomyelination; pontocerebellar hypoplasia; spinal muscular atrophy