Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.S404A
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LMNA

NM_170707.4:p.S404A

Associated Papers

PTMD 2.0: an updated database of disease-associated post-translational modifications.

Huang X et al.

Nucleic Acids Research, 2025

39329270 (PubMed )
Supplement: gkae850_supplemental_files.zip › Table_S2.xlsx › Table_S2

The Accumulation of Progerin Underlies the Loss of Aortic Smooth Muscle Cells in Hutchinson-Gilford Progeria Syndrome.

Kim PH et al.

Biorxiv : the Preprint Server for Biology, 2024

Akt1-associated actomyosin remodelling is required for nuclear lamina dispersal and nuclear shrinkage in epidermal terminal differentiation.

Rogerson C et al.

Cell Death and Differentiation, 2021

AKT1-mediated Lamin A/C degradation is required for nuclear degradation and normal epidermal terminal differentiation.

Naeem AS et al.

Cell Death and Differentiation, 2015

Differential basal-to-apical accessibility of lamin A/C epitopes in the nuclear lamina regulated by changes in cytoskeletal tension.

Ihalainen TO et al.

Nature Materials, 2015

26301768 (PubMed )
Supplement: NIHMS64182-supplement-1.pdf

Interphase phosphorylation of lamin A.

Kochin V et al.

Journal of Cell Science, 2014

The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression.

Bertacchini J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Partners and post-translational modifications of nuclear lamins.

Simon DN et al.

Chromosoma, 2013

Muscular laminopathies: role of prelamin A in early steps of muscle differentiation.

Maraldi NM et al.

Advances in Enzyme Regulation, 2011

Physiology and pathology of nuclear phospholipase C β1.

Cocco L et al.

Advances in Enzyme Regulation, 2011

A-type lamins and signaling: the PI 3-kinase/Akt pathway moves forward.

Marmiroli S et al.

Journal of Cellular Physiology, 2009

Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells.

Cenni V et al.

Journal of Proteome Research, 2008

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