Results 11 to 20 of about 4,130 (205)

HGPS-Derived iPSCs For The Ages [PDF]

Cell Stem Cell, 2011
In this issue of Cell Stem Cell, Zhang et al. (2011) generate patient-derived iPSCs for one of the major premature aging diseases, Hutchinson-Gilford Progeria Syndrome (HGPS). These cells are a much-needed new tool to study HGPS, and their use may lead to novel insights into mechanisms of aging.
Tom Misteli, Misteli, Tom
openaire   +4 more sources

Truncated prelamin A expression in HGPS-like patients: a transcriptional study [PDF]

European Journal of Human Genetics, 2015
Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction.
Barthelemy, F., Navarro, C, Fayek, R., Silva, N., Roll, P., Sigaudy, S., Oshima, J., Bonne, G., Papadopoulou-Legbelou, K., Evangeliou, A.E., Spilioti, M., Lemerrer, M., Wevers, R.A., Wevers, R.A., Morava, E., Robaglia-Schlupp, A., Levy, N., Bartoli, M., De Sandre-Giovannoli, A.   +18 more
openaire   +6 more sources

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. [PDF]

Aging Cell
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Cabral WA, Grenko CM, Yeritsyan D, Beeram I, Laiwala S, Johnson LR, Tavarez UL, Yan T, Wincovitch SM, Koblan LW, Gao XD, An M, Narisu N, Biesecker LG, Liu DR, Nazarian A, Collins FS, Erdos MR.   +17 more
europepmc   +2 more sources

Progerin Hinders Autophagy Flux at Its Final Stages in Hutchinson-Gilford Progeria Syndrome Cells, Preventing Its Own Autophagic Degradation. [PDF]

Aging Cell
We demonstrated that progerin induces the formation of autophagosomes but impairs their maturation and subsequent fusion with lysosomes. Progerin impedes proper autophagy flux, thus preventing its own autophagic degradation. Selinexor treatment improved both autophagosome maturation and autophagosome‐lysosome fusion, which ultimately led to effective ...
García-Aguirre I, Reyes-Martínez JA, Unzueta J, Guevara-Namorado F, Lizcano-Meneses S, Gonzalo S, Baldan A, Rangel C, Alanis-Funes GJ, Garcia-Sierra F, Ruiz-Fajardo K, Gormes-Pinchanski S, Castro-Obregón S, Meza-Dorantes A, Chavez-Santoscoy RA, Arrieta-Cruz I, Tristán-Aburto P, Magaña JJ, Cisneros B.   +18 more
europepmc   +2 more sources

Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice. [PDF]

Aging Cell
Targeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Freitas-Rodríguez S, Valle-Cao A, Rodríguez F, Fernández-Sanjurjo M, Fernández-García B, Loredo V, Fernández-García MT, Fiuza-Luces C, Lucia A, López-Otín C, López-Soto A, Folgueras AR.   +11 more
europepmc   +2 more sources

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

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

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

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