期刊
ANNALS OF NEUROLOGY
卷 75, 期 3, 页码 442-446出版社
WILEY
DOI: 10.1002/ana.24104
关键词
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资金
- Canadian Institutes of Health Research
- Ontario Brain Institute
- Ontario Ministry of Research and Innovation
- families and friends of patients with LD worldwide
- Epilepsy Canada
Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Malin deficiency causes Lafora disease, pathologically characterized by neurodegeneration and accumulations of malformed glycogen (Lafora bodies). We show that reducing glycogen production in malin-deficient mice by genetically removing PTG, a glycogen synthesis activator protein, nearly completely eliminates Lafora bodies and rescues the neurodegeneration, myoclonus, seizure susceptibility, and behavioral abnormality. Glycogen synthesis downregulation is a potential therapy for the fatal adolescence onset epilepsy Lafora disease. Ann Neurol 2014;75:442-446
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