Article
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Aging cell - 1 Nov 2022
Ghosh Debasish Kumar, Pande Shruti, Kumar Jeevan, Yesodharan Dhanya, Nampoothiri Sheela, Radhakrishnan Periyasamy, Reddy Chilakala Gangi, Ranjan Akash, Girisha Katta M
Abstract excerpt
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 identification of a mutation, c.784G>A, in LMNA, resulting in a missense protein variant, p.Glu262Lys (E262K), that aggregates...
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