| Autor: |
Robin, Waegaert, Sylvie, Dirrig-Grosch, Haoyi, Liu, Marion, Boutry, Ping, Luan, Jean-Philippe, Loeffler, Frédérique, René |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Biomolecules. 12(4) |
| ISSN: |
2218-273X |
| Popis: |
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases with clinical, genetic, and pathological overlap. Different mutations have now been identified across the ALS-FTD spectrum. Disruption of the neuromuscular junction is an early pathogenic event in ALS. Currently, the links between neuromuscular junction functionality and ALS-associated genes, such as CHMP2B, remain poorly understood. We have previously shown that CHMP2B transgenic mice expressing the CHMP2B |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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