Results 11 to 20 of about 4,296 (130)

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

Hutchinson-Gilford progeria syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2017
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin ...
Zahoor Hussain Daraz, A. B. M. Osman Hayder Mazumder, Shahana A. Rahman   +2 more
doaj   +1 more source

SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome

Nature Communications, 2020
Hutchinson-Gilford progeria syndrome is a genetic disease where an aberrant form of Lamin A disrupts chromatin by interfering with lamina associated domains.
Endre Sebestyén, Fabrizia Marullo, Federica Lucini, Cristiano Petrini, Andrea Bianchi, Sara Valsoni, Ilaria Olivieri, Laura Antonelli, Francesco Gregoretti, Gennaro Oliva, Francesco Ferrari, Chiara Lanzuolo   +11 more
doaj   +1 more source

Differential expression of A-type and B-type lamins during hair cycling. [PDF]

PLoS ONE, 2009
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as ...
Mubashir Hanif, Ylva Rosengardten, Hanna Sagelius, Björn Rozell, Maria Eriksson   +4 more
doaj   +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

Arterial stiffness and cardiac dysfunction in Hutchinson–Gilford Progeria Syndrome corrected by inhibition of lysyl oxidase

Life Science Alliance, 2021
The findings show that increased lysyl oxidase abundance is causal for the elevated arterial stiffness present in the arteries of Hutchinson–Gilford Progeria Syndrome mice.
Ryan von Kleeck, Emilia Roberts, Paola Castagnino, Kyle Bruun, Sonja A Brankovic, Elizabeth A Hawthorne, Tina Xu, John W Tobias, Richard K Assoian   +8 more
doaj   +1 more source

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

Nature Communications, 2020
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease and smooth muscle cells are the most affected cells in HGPS individuals. Here, the authors report a microfluidics platform with HGPS induced pluripotent stem cells and show that ...
Patricia R. Pitrez, Luís Estronca, Luís Miguel Monteiro, Guillem Colell, Helena Vazão, Deolinda Santinha, Karim Harhouri, Daniel Thornton, Claire Navarro, Anne-Laure Egesipe, Tânia Carvalho, Rodrigo L. Dos Santos, Nicolas Lévy, James C. Smith, João Pedro de Magalhães, Alessandro Ori, Andreia Bernardo, Annachiara De Sandre-Giovannoli, Xavier Nissan, Anna Rosell, Lino Ferreira   +20 more
doaj   +1 more source

Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome

Analytical Cellular Pathology, 2018
Background. Increased oxidative stress is a major cause of aging and age-related diseases. Erythrocytes serve as good model for aging studies. Dihydrotachysterol is known to induce premature aging feature in rats mimicking Hutchinson-Gilford progeria ...
Manoj Kumar Chaudhary, Syed Ibrahim Rizvi   +1 more
doaj   +1 more source

Ranolazine treatment for refractory angina in a patient with Hutchinson-Gilford progeria syndrome and end stage aortic stenosis

Cardiogenetics, 2020
Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or ...
Giuseppe Limongelli, Emanuele Monda, Giovanbattista Capozzi, Martina Caiazza, Maria Giovanna Russo   +4 more
doaj   +1 more source