Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3

hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 (LGMD D3). Mammalian-specific alternative splicing (AS) renders three natural isoforms, hnRNPDL-2 being predominant in humans. We present the cryo...

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Detalles Bibliográficos
Autores principales: Garcia-Pardo, Javier, Bartolomé-Nafría, Andrea, Chaves-Sanjuan, Antonio, Gil-Garcia, Marcos, Visentin, Cristina, Bolognesi, Martino, Ricagno, Stefano, Ventura, Salvador
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842712/
https://www.ncbi.nlm.nih.gov/pubmed/36646699
http://dx.doi.org/10.1038/s41467-023-35854-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842712/
https://www.ncbi.nlm.nih.gov/pubmed/36646699
http://dx.doi.org/10.1038/s41467-023-35854-0

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