A heterozygous p.S143P mutation in LMNA associates with proteasome dysfunction and enhanced autophagy-mediated degradation of mutant lamins A and C

Lamins A and C are nuclear intermediate filament proteins that form a proteinaceous meshwork called lamina beneath the inner nuclear membrane. Mutations in the LMNA gene encoding lamins A and C cause a heterogenous group of inherited degenerative diseases known as laminopathies. Previous studies hav...

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Detalles Bibliográficos
Autores principales: West, Gun, Turunen, Minttu, Aalto, Anna, Virtanen, Laura, Li, Song-Ping, Heliö, Tiina, Meinander, Annika, Taimen, Pekka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468711/
https://www.ncbi.nlm.nih.gov/pubmed/36111332
http://dx.doi.org/10.3389/fcell.2022.932983

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468711/
https://www.ncbi.nlm.nih.gov/pubmed/36111332
http://dx.doi.org/10.3389/fcell.2022.932983

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