Results 11 to 20 of about 2,732 (185)
Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS
Cells, 2023 Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene.
Bum-Joon Park +2 more
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A new fluorescent probe for the visualization of progerin [PDF]
Bioorganic Chemistry, 2023 Hutchinson-Gilford progeria syndrome (HGPS) or progeria is a rare genetic disease that causes premature aging, leading to a drastic reduction in the life expectancy of patients. Progeria is mainly caused by the intracellular accumulation of a defective protein called progerin, generated from a mutation in the LMNA gene.
Macicior Michelena, Jon +2 more
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Attenuated Nuclear Tension Regulates Progerin‐Induced Mechanosensitive Nuclear Wrinkling and Chromatin Remodeling [PDF]
Advanced ScienceHutchinson–Gilford progeria syndrome, caused by a mutation in the LMNA gene, leads to increased levels of truncated prelamin A, progerin, in the nuclear membrane. The accumulation of progerin results in defective nuclear morphology and is associated with
Ji‐Eun Park +9 more
doaj +3 more sources
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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Lamin microaggregates lead to altered mechanotransmission in progerin-expressing cells [PDF]
Nucleus, 2020 The nuclear lamina is a meshwork of intermediate filament proteins, and lamin A is the primary mechanical protein. An altered splicing of lamin A, known as progerin, causes the disease Hutchinson-Gilford progeria syndrome.
Brooke E. Danielsson +7 more
doaj +3 more sources
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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Cells, 2022 Progerin, a permanently farnesylated prelamin A protein in cell nuclei, is potentially implicated in the defenestration of liver sinusoidal endothelial cells (LSECs) and liver fibrogenesis.
Xiuling Li, Bingyong Zhang, Liu Jying
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The accumulation of progerin underlies the loss of aortic smooth muscle cells in Hutchinson-Gilford progeria syndrome [PDF]
Cell Death and DiseaseHutchinson-Gilford progeria syndrome (HGPS) is caused by progerin, an internally truncated prelamin A that does not undergo the ZMPSTE24 processing step that releases prelamin A’s farnesylated carboxyl terminus; consequently, progerin remains ...
Paul H. Kim +9 more
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The unfolded protein response in progeria arteries originates from non-endothelial cell types [PDF]
Life Science AllianceProgeroid endothelial cells do not show a robust activation of the unfolded protein response, contrary to what has been reported in other arterial cell types such as vascular smooth muscle cells. Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature
Raquel A Silva +4 more
doaj +2 more sources
Cells, 2020 Cardiovascular disease (CVD) is the main cause of death worldwide, and aging is its leading risk factor. Aging is much accelerated in Hutchinson−Gilford progeria syndrome (HGPS), an ultra-rare genetic disorder provoked by the ubiquitous expression ...
Vicente Andres +2 more
exaly +3 more sources