The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio‐functional nuclear abnormalities that result in several laminopathy‐associated progeroid conditions. In this study, exome sequencing in a sixteen‐year‐old male with manifestations of premature aging led to the identificat...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghosh, Debasish Kumar, Pande, Shruti, Kumar, Jeevan, Yesodharan, Dhanya, Nampoothiri, Sheela, Radhakrishnan, Periyasamy, Reddy, Chilakala Gangi, Ranjan, Akash, Girisha, Katta M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649601/
https://www.ncbi.nlm.nih.gov/pubmed/36225129
http://dx.doi.org/10.1111/acel.13688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649601/
https://www.ncbi.nlm.nih.gov/pubmed/36225129
http://dx.doi.org/10.1111/acel.13688

Ejemplares similares