Longwave UV Light Induces the Aging-Associated Progerin [PDF]
Journal of Investigative Dermatology, 2013 Premature aging in Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation of the LMNA gene that activates a cryptic splice site. This results in expression of a truncated form of Lamin A, called progerin. Accumulation of progerin in the nuclei of HGPS cells impairs nuclear functions and causes abnormal nuclear morphology.
Takeuchi, Hirotaka, Rünger, Thomas M.
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Generation of Nonintegrative-Induced Pluripotent Stem Cells in Hutchinson-Gilford Progeria Syndrome: Enhancing Aging Research. [PDF]
Aging Med (Milton)We generated genetically stable iPSCs from HGPS patients using a nonintegrative Sendai virus method. This approach preserves cellular integrity, enhances disease modeling, and enables accurate study of Progerin‐induced cardiovascular dysfunction. Overall, it provides a reliable platform for understanding HGPS and aging‐related disease pathology and ...
Kadiwala J, Shakur R.
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Mapping of lamin A- and progerin-interacting genome regions [PDF]
Chromosoma, 2012 Mutations in the A-type lamins A and C, two major components of the nuclear lamina, cause a large group of phenotypically diverse diseases collectively referred to as laminopathies. These conditions often involve defects in chromatin organization.
Kubben, Nard +5 more
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Chromatin and Cytoskeletal Tethering Determine Nuclear Morphology in Progerin-Expressing Cells [PDF]
Biophysical Journal, 2020 38 pages, 25 ...
Lionetti, Maria Chiara +8 more
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Differential temporal and spatial progerin expression during closure of the ductus arteriosus in neonates. [PDF]
PLoS ONE, 2011 Closure of the ductus arteriosus (DA) at birth is essential for the transition from fetal to postnatal life. Before birth the DA bypasses the uninflated lungs by shunting blood from the pulmonary trunk into the systemic circulation.
Regina Bökenkamp +7 more
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Progerin-expressing endothelial cells are unable to adapt to shear stress [PDF]
Biophysical Journal, 2021 AbstractHutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disease caused by a single-point mutation in the lamin A gene, resulting in a truncated and farnesylated form of lamin A. This mutant lamin A protein, known as progerin, accumulates at the periphery of the nuclear lamina, resulting in both an abnormal nuclear morphology and ...
Brooke E. Danielsson +6 more
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Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A
Scientific Reports, 2021 Werner syndrome (WRN) is a rare progressive genetic disorder, caused by functional defects in WRN protein and RecQ4L DNA helicase. Acceleration of the aging process is initiated at puberty and the expected life span is approximately the late 50 s ...
So-mi Kang +11 more
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Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]
, 2018 Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide +13 more
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Doubled lifespan and patient‐like pathologies in progeria mice fed high‐fat diet [PDF]
, 2019 Hutchinson-Gilford Progeria Syndrome (HGPS) is a devastating premature aging disease. Mouse models have been instrumental for understanding HGPS mechanisms and for testing therapies, which to date have had only marginal benefits in mice and patients ...
Albert, Carolyn J +10 more
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Progerin guilty of size discrimination [PDF]
Journal of Cell Biology, 2013 ![Figure][1] Tpr (red) accumulates in the nuclei of cells from a healthy person (left), but it remains in the cytoplasm of cells from an HGPS patient (right). A mutant protein responsible for Hutchinson-Gilford Progeria syndrome (HGPS) bars large proteins from entering the nucleus ...
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