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CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model
Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative disease caused by the expansion of CGG repeats in the 5′ untranslated region (UTR) of the NOTCH2NLC gene. These repeats can be translated into a polyglycine-containing protein, uN2CpolyG, which forms protein inclusio...
Autores principales: | Yu, Jiaxi, Liufu, Tongling, Zheng, Yilei, Xu, Jin, Meng, Lingchao, Zhang, Wei, Yuan, Yun, Hong, Daojun, Charlet-Berguerand, Nicolas, Wang, Zhaoxia, Deng, Jianwen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9565157/ https://www.ncbi.nlm.nih.gov/pubmed/36191230 http://dx.doi.org/10.1073/pnas.2208649119 |
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