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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
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

Internet

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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