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- W2012068653 abstract "Pediatric neurodegenerative diseases are a heterogeneous group of diseases that result from specific genetic and biochemical defects. In recent years, studies have revealed a wide spectrum of abnormal cellular functions that include impaired proteolysis, abnormal lipid trafficking, accumulation of lysosomal content, and mitochondrial dysfunction. Within neurons, elaborated degradation pathways such as the ubiquitin–proteasome system and the autophagy–lysosomal pathway are critical for maintaining homeostasis and normal cell function. Recent evidence suggests a pivotal role for autophagy in major adult and pediatric neurodegenerative diseases. We herein review genetic, pathological, and molecular evidence for the emerging link between autophagy dysfunction and lysosomal storage disorders such as Niemann–Pick type C, progressive myoclonic epilepsies such as Lafora disease, and leukodystrophies such as Alexander disease. We also discuss the recent discovery of genetically deranged autophagy in Vici syndrome, a multisystem disorder, and the implications for the role of autophagy in development and disease. Deciphering the exact mechanism by which autophagy contributes to disease pathology may open novel therapeutic avenues to treat neurodegeneration. To this end, an outlook on novel therapeutic approaches targeting autophagy concludes this review." @default.
- W2012068653 created "2016-06-24" @default.
- W2012068653 creator A5010141041 @default.
- W2012068653 creator A5041028445 @default.
- W2012068653 creator A5045218892 @default.
- W2012068653 creator A5090027115 @default.
- W2012068653 date "2013-10-28" @default.
- W2012068653 modified "2023-10-15" @default.
- W2012068653 title "Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases" @default.
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- W2012068653 doi "https://doi.org/10.1038/pr.2013.185" @default.
- W2012068653 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24165736" @default.
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