Results 21 to 30 of about 4,214 (205)

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

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

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

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   +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

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

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

The degree and direction of subgenome expression bias in Brassica napus vary between cultivars, tissues and developmental stages [PDF]

Plant J
SUMMARY Most extant plant lineages show evidence of past polyploidisation events in their genomes. Allopolyploids arise from hybridisation, resulting in polyploid genomes comprising subgenomes from different ancestors. Adaptation to their environment, pre‐ and post‐hybridisation and selection for specific traits has led to several allopolyploids ...
Woolfenden H, Wells R, Morris R.
europepmc   +2 more sources

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

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