2017
DOI: 10.3389/fncel.2017.00407
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Abstract: Cerebral palsy (CP) is a major cause of childhood disability in developed and developing countries, but the pathogenic mechanisms of CP development remain largely unknown. Autophagy is a highly conserved cellular self-digestion of damaged organelles and dysfunctional macromolecules. Growing evidence suggests that autophagy-related gene 5 (ATG5)-dependent autophagy is involved in neural development, neuronal differentiation, and neurological degenerative diseases. The aim of this study was to analyze ATG5 prote… Show more

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Cited by 25 publications
(27 citation statements)
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References 49 publications
(65 reference statements)
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“…These data suggest that the reduction of autophagic flux in these patients might be due to defective lipidation of ATG8 family proteins . Recently, a polymorphism of ATG5 (rs6568431) correlated with lower ATG5 expression was associated with childhood cerebral palsy (CP) . However, the detailed mechanism about how this polymorphism causes CP has not been reported.…”
Section: Hereditary Childhood Ataxiasmentioning
confidence: 99%
See 1 more Smart Citation
“…These data suggest that the reduction of autophagic flux in these patients might be due to defective lipidation of ATG8 family proteins . Recently, a polymorphism of ATG5 (rs6568431) correlated with lower ATG5 expression was associated with childhood cerebral palsy (CP) . However, the detailed mechanism about how this polymorphism causes CP has not been reported.…”
Section: Hereditary Childhood Ataxiasmentioning
confidence: 99%
“…1,8 Recently, a polymorphism of ATG5 (rs6568431) correlated with lower ATG5 expression was associated with childhood cerebral palsy (CP). 9 However, the detailed mechanism about how this polymorphism causes CP has not been reported. Review 641…”
Section: Hereditary Childhood Ataxiasmentioning
confidence: 99%
“…11 In humans, mutations or polymorphisms in autophagy genes are associated with susceptibility to infection, cancer, inflammatory diseases, asthma, cerebral palsy, frontotemporal dementia, amyotrophic lateral sclerosis (ALS), Huntington’s disease, and Parkinson’s disease. 1114 Moreover, gain-of-function mutations or enforced expression of autophagy genes in mice have beneficial effects including improved metabolism and tissue function, extended lifespan, neuroprotection, and decreased tumorigenesis. 11, 1519 Thus, the development of autophagy-inducing agents may be a promising therapeutic approach to prevent and/or treat certain diseases in clinical medicine.…”
Section: Introductionmentioning
confidence: 99%
“…SNPs and variants causing dysregulation of ATG5 expression levels have also been reported. A homozygous ATG5 variant (rs6568431 AA genotype) resulting in lower ATG5 expression was identified to be associated with childhood cerebral palsy (CP) 20 . It will be important to validate these findings in subsequent replication studies.…”
Section: Dysfunction Of the Cerebellar Vermis Causes Staggeringmentioning
confidence: 99%