Ketogenic diet reduces Lafora bodies in murine Lafora disease
| Autor: | Lori Israelian, Xiaochu Zhao, Berge A. Minassian, Shoghig Gabrielian, Peixiang Wang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
biology Glycogen Progressive myoclonus epilepsy medicine.disease Lafora disease Ubiquitin ligase Cell biology 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology 0302 clinical medicine chemistry Downregulation and upregulation Glycogen branching enzyme biology.protein medicine Neurology (clinical) Glycogen synthase Laforin Clinical/Scientific Notes 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neurology: Genetics article-version (Version of Record) 3 |
| ISSN: | 2376-7839 |
| Popis: | Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycogen phosphatase laforin or EPM2B encoding the laforin-interacting ubiquitin E3 ligase malin. Concerted actions of glycogen synthase (GS) and branching enzyme generate normal short-branched soluble glycogen. In LD, some glycogen molecules develop long branches, precipitate, and accumulate into pathognomonic and pathogenic Lafora bodies (LBs). The precise mechanism by which the laforin-malin complex mitigates this is unknown, but thought to involve GS downregulation. In fact, transgenic GS downregulation in LD mouse models reduces LB formation and rescues the disease.1,2 |
| Databáze: | OpenAIRE |
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