Results 11 to 20 of about 5,487 (200)

Progerin mislocalizes myocardin-related transcription factor in Hutchinson–Guilford Progeria syndrome

Vascular Biology, 2022
Hutchinson–Guilford Progeria syndrome (HGPS) is a rare genetic disease of premature aging and early death due to cardiovascular disease. The arteries of HGPS children and mice are pathologically stiff, and HGPS mice also display reduced arterial ...
Ryan von Kleeck, Paola Castagnino, Richard K Assoian   +2 more
doaj   +1 more source

miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

iScience, 2022
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, in which an abnormal and toxic protein called progerin, accumulates in cell nuclei, leading to major cellular defects.
Diane Frankel, Valérie Delecourt, Elva-María Novoa-del-Toro, Jérôme D. Robin, Coraline Airault, Catherine Bartoli, Aurélie Carabalona, Sophie Perrin, Kilian Mazaleyrat, Annachiara De Sandre-Giovannoli, Frederique Magdinier, Anaïs Baudot, Nicolas Lévy, Elise Kaspi, Patrice Roll   +14 more
doaj   +1 more source

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.
Bae-Hoon Kim, Yeon-Ho Chung, Tae-Gyun Woo, So-Mi Kang, Soyoung Park, Bum-Joon Park   +5 more
doaj   +1 more source

iPSC-Derived Endothelial Cells Affect Vascular Function in a Tissue-Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome

Stem Cell Reports, 2020
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disorder caused by a point mutation in the Lamin A gene that produces the protein progerin. Progerin toxicity leads to accelerated aging and death from cardiovascular disease.
Leigh Atchison, Nadia O. Abutaleb, Elizabeth Snyder-Mounts, Yantenew Gete, Alim Ladha, Thomas Ribar, Kan Cao, George A. Truskey   +7 more
doaj   +1 more source

Impact of MnTBAP and Baricitinib Treatment on Hutchinson–Gilford Progeria Fibroblasts

Pharmaceuticals, 2022
Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disease. It is caused by a mutation in the LMNA gene, which results in a 50-amino-acid truncation of prelamin A.
Elena Vehns, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

Vascular Smooth Muscle Cell-Specific Progerin Expression Provokes Contractile Impairment in a Mouse Model of Hutchinson-Gilford Progeria Syndrome that Is Ameliorated by Nitrite Treatment

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 ...
Lara del Campo, Amanda Sánchez-López, Cristina González-Gómez, María Jesús Andrés-Manzano, Beatriz Dorado, Vicente Andrés   +5 more
doaj   +1 more source

Impact of Progerin Expression on Adipogenesis in Hutchinson—Gilford Progeria Skin-Derived Precursor Cells

Cells, 2021
Hutchinson–Gilford progeria syndrome (HGPS) is a segmental premature aging disease caused by a mutation in LMNA. The mutation generates a truncated and farnesylated form of prelamin A, called progerin.
Farah Najdi, Peter Krüger, Karima Djabali   +2 more
doaj   +1 more source

Altered behavior with an organic cause: a case report

Journal of Medical Case Reports, 2019
Background Insulinomas are pancreatic endocrine tumors of rare incidence worldwide, the vast majority are of single occurrence and benign. These may not always present with the clear symptoms described in the literature and may be overlooked because ...
Dolores Mejía, Rafael Contreras, Guarina Molina, Michael Alcántara   +3 more
doaj   +1 more source

A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells

eLife, 2021
A farnesylated and methylated form of prelamin A called progerin causes Hutchinson-Gilford progeria syndrome (HGPS). Inhibiting progerin methylation by inactivating the isoprenylcysteine carboxylmethyltransferase (ICMT) gene stimulates proliferation of ...
Xue Chen, Haidong Yao, Muhammad Kashif, Gwladys Revêchon, Maria Eriksson, Jianjiang Hu, Ting Wang, Yiran Liu, Elin Tüksammel, Staffan Strömblad, Ian M Ahearn, Mark R Philips, Clotilde Wiel, Mohamed X Ibrahim, Martin O Bergo   +14 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, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources