Patient-Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson-Gilford Progeria Syndrome. [PDF]
Aging CellHGPS patient‐derived cortical organoids exhibit progerin accumulation, nuclear abnormalities, and increased senescence in rosette structures, leading to impaired neuronal differentiation and altered gene expression. ABSTRACT Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by ...
Jeon S +6 more
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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
doaj +1 more source
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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Cells, 2020 Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disorder notably characterized by precocious and deadly atherosclerosis. Almost 90% of HGPS patients carry a LMNA p.G608G splice variant that leads to the expression of a permanently ...
Guillaume Bidault +5 more
doaj +1 more source
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
doaj +1 more source
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
core +2 more sources
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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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
core +2 more sources