Autophagy in Childhood Neurological Disorders
Authors
Rubinsztein, DC
Zhu, Ye
Runwal, Gautam
Obrocki, Pawel
Publication Date
2019-06Journal Title
Developmental Medicine and Child Neurology
ISSN
1469-8749
Publisher
Wiley-Blackwell
Volume
61
Issue
6
Pages
639-645
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Rubinsztein, D., Zhu, Y., Runwal, G., & Obrocki, P. (2019). Autophagy in Childhood Neurological Disorders. Developmental Medicine and Child Neurology, 61 (6), 639-645. https://doi.org/10.1111/dmcn.14092
Abstract
Autophagy is a tightly modulated lysosomal degradation pathway. Genetic disorders of autophagy during nervous system development may lead to developmental delay, neurodegeneration and other neurological signs in children. Here we aimed to summarize single gene disorders that perturb various steps of autophagy pathway and their roles in the causation of childhood neurological diseases. Numerous childhood-onset disorders are caused by mutations that impact the autophagy pathway. These can manifest with a range of features including ataxia, spastic paraplegia, and intellectual disability. Defective proteins causing such diseases can interfere with autophagy flux at different stages of the itinerary. Defective autophagy may be an important contributor to the pathological features of various childhood neurodegenerative disease and lead to the accumulation of aberrant protein and dysfunctional organelles. Insights into the relevant cell biological processes may help understand pathophysiological mechanisms and inspire autophagy-restoring therapeutic approaches.
Sponsorship
MRC
Funder references
Wellcome Trust (100140/Z/12/Z)
Identifiers
External DOI: https://doi.org/10.1111/dmcn.14092
This record's URL: https://www.repository.cam.ac.uk/handle/1810/286379
Rights
Licence:
http://www.rioxx.net/licenses/all-rights-reserved
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