Results 11 to 20 of about 7,722 (240)

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.
T. Misteli
semanticscholar   +5 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 ...
F. Barthélémy, C. Navarro, Racha Fayek, N. Da Silva, P. Roll, S. Sigaudy, J. Oshima, G. Bonne, K. Papadopoulou-Legbelou, A. Evangeliou, M. Spilioti, M. Lemerrer, R. Wevers, E. Morava, A. Robaglia-Schlupp, N. Lévy, M. Bartoli, Annachiara De Sandre-Giovannoli   +17 more
semanticscholar   +2 more sources

Inflammation and Fibrosis in Progeria: Organ-Specific Responses in an HGPS Mouse Model [PDF]

International Journal of Molecular Sciences
Hutchinson–Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder that causes accelerated aging, due to a pathogenic variant in the LMNA gene.
Peter Krüger, Moritz Schroll, F. Fenzl, E. Lederer, Ramona Hartinger, Rouven Arnold, Deniz Cagla Togan, Runjia Guo, Shiyu Liu, A. Petry, Agnes Görlach, K. Djabali   +11 more
semanticscholar   +2 more sources

Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome [PDF]

Scientific Reports, 2023
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic disease that accelerates atherosclerosis. With a limited pool of HGPS patients, clinical trials face unique challenges and require reliable preclinical testing. We previously reported a
Nadia O. Abutaleb, Leigh Atchison, Leandro Choi, Akhil Bedapudi, Kevin Shores, Yantenew Gete, Kan Cao, George A. Truskey   +7 more
doaj   +2 more sources

Structure and stability of the lamin A tail domain and HGPS mutant [PDF]

Journal of Structural Biology, 2011
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging syndrome caused by the expression and accumulation of a mutant form of lamin A, Δ50 lamin A. As a component of the cell's nucleoskeleton, lamin A plays an important role in the mechanical stabilization of the nuclear envelope and in other nuclear functions.
Qin, Zhao, Kalinowski, Agnieszka, Dahl, Kris Noel, Buehler, Markus J   +3 more
openaire   +5 more sources

Accelerated atherosclerosis in HGPS

Aging, 2018
rupture, which ultimately provokes ischemic cardiovascular events ...
Hamczyk, Magda R., Andres, Vicente
openaire   +4 more sources

Endothelial YAP/TAZ activation promotes atherosclerosis in a mouse model of Hutchinson-Gilford progeria syndrome

The Journal of Clinical Investigation
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease caused by the expression of progerin, an aberrant protein produced by a point mutation in the LMNA gene.
Ana Barettino, Cristina González-Gómez, Pilar Gonzalo, María J. Andrés-Manzano, Carlos R. Guerrero, Francisco M. Espinosa, Rosa M. Carmona, Yaazan Blanco, Beatriz Dorado, Carlos Torroja, Fátima Sánchez-Cabo, Ana Quintas, Alberto Benguría, Ana Dopazo, Ricardo García, Ignacio Benedicto, Vicente Andrés   +16 more
doaj   +2 more sources

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

Nature Communications, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death.
Gabriel Balmus, Delphine Larrieu, Ana C. Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J. Geisler, Christopher J. Lelliott, Jacqueline K. White, Natasha A. Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, Sanger Mouse Genetics Project, David J. Adams, Stephen P. Jackson   +17 more
doaj   +2 more sources

Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Cells, 2021
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

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