Varaico: Literature-Extracted Genetic Variants

Gene:ZMPSTE24
Variant:p.L425P
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ZMPSTE24

NM_005857.5:p.L425P

Associated Papers

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.

Odinammadu KO et al.

Nucleus (austin, Tex.), 2023

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.

Harhouri K et al.

Cells, 2022

Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency.

Yao H et al.

Aging Cell, 2020

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.

Spear ED et al.

Disease Models & Mechanisms, 2018

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K et al.

Cells, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."