Results 41 to 50 of about 5,892 (251)

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

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

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

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging

Life Science Alliance, 2022
Using of genome-wide approaches on models from laminopathies with or without progerin accumulation (HGPS, HGPS-L, APS), this study provides new insights on pathways altered during early stages of mesenchymal stem cells differentiation.
Jean Philippe Trani, Raphaël Chevalier, Leslie Caron, Claire El Yazidi, Natacha Broucqsault, Léa Toury, Morgane Thomas, Karima Annab, Bernard Binetruy, Annachiara De Sandre-Giovannoli, Nicolas Levy, Frédérique Magdinier, Jérôme D Robin   +12 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

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
core   +1 more source

Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome

Cells, 2020
Hutchinson−Gilford Progeria Syndrome (HGPS) is a segmental premature aging disease causing patient death by early teenage years from cardiovascular dysfunction.
Ray Kreienkamp, Susana Gonzalo
doaj   +1 more source

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun, Das, Soma, Dempsey, Melissa, Dietz, Harry C, Jones, Marilyn C, Lozada, Anthony   +5 more
core   +3 more sources

Rescue of Mitochondrial Function in Hutchinson-Gilford Progeria Syndrome by the Pharmacological Modulation of Exportin CRM1

Cells, 2023
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder caused by the expression of progerin, a mutant variant of Lamin A. Recently, HGPS studies have gained relevance because unraveling its underlying mechanism would help to ...
Feliciano Monterrubio-Ledezma, Fernando Navarro-García, Lourdes Massieu, Ricardo Mondragón-Flores, Luz Adriana Soto-Ponce, Jonathan J. Magaña, Bulmaro Cisneros   +6 more
doaj   +1 more source

Accelerated atherosclerosis in HGPS

Aging, 2018
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Hamczyk, Magda R., Andres, Vicente
openaire   +3 more sources