Results 61 to 70 of about 7,722 (240)
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome
Genome Medicine, 2020 Background Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid disease characterized by the early onset of age-related phenotypes including arthritis, loss of body fat and hair, and atherosclerosis. Cells from affected individuals express a mutant
Florian Köhler +9 more
doaj +1 more source
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition. [PDF]
PLoS ONE, 2010 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disorder caused by a de novo heterozygous point mutation G608G (GGC>GGT) within exon 11 of LMNA gene encoding A-type nuclear lamins.
Jackleen Marji +8 more
doaj +1 more source
PDE4D and PDE3B orchestrate distinct cAMP microdomains in 3T3‐L1 adipocytes
British Journal of Pharmacology, EarlyView.Basal conditions: •Ins/PDE3B lowers cytoplasmic cAMP (cyt‐cAMP) without affecting plasma membrane cAMP (pm‐cAMP). •Insulin decreases lipid droplet cAMP (LD‐cAMP) independent of PDE3B. •FGF1/PDE4D modestly reduces both cyt‐ and pm‐cAMP, while PDE4D alone can modulate LD‐cAMP. ISO stimulation: •Ins/PDE3B has minimal impact on cyt‐cAMP.
Johannes Krier +9 more
wiley +1 more source
The H.E.S.S. Galactic plane survey [PDF]
, 2016 We present the results of the most comprehensive survey of the Galactic plane in very high-energy (VHE) γ-rays, including a public release of Galactic sky maps, a catalog of VHE sources, and the discovery of 16 new sources of VHE γ-rays.
H. Collaboration
semanticscholar +1 more source
Drugs, 2021 Lonafarnib (Zokinvy™) is an orally active farnesyltransferase inhibitor developed by Eiger BioPharmaceuticals under license from Merck & Co. for the treatment of hepatitis D virus (HDV) infections, and progeria and progeroid laminopathies.
Sohita Dhillon
semanticscholar +1 more source
An alternative source of purine partially reverts the premature phenotype aging in HGPS-derived cells. [PDF]
, 2018 Effect of incubation with SAMe on the premature-aging phenotype of HGPS cell lines. MTT-based proliferation assay (A) showing that periodic addition of SAMe to the culture media at a final concentration of 10 μg/mL, have a significant (p-value≤ 0.05 ...
Juan Fafián-Labora (5917748) +8 more
core +1 more source
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
The Application of Clinical Genetics, 2020 Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H +5 more
doaj
eLife, 2020 Vascular dysfunctions are a common feature of multiple age-related diseases. However, modeling healthy and pathological aging of the human vasculature represents an unresolved experimental challenge. Here, we generated induced vascular endothelial cells (
Simone Bersini +4 more
doaj +1 more source
EMBO Molecular Medicine, 2021 Inflammation is a hallmark of aging and accelerated aging syndromes such as Hutchinson–Gilford progeria syndrome (HGPS). In this study, we present evidence of increased expression of the components of the NLRP3 inflammasome pathway in HGPS skin ...
Alvaro González‐Dominguez +9 more
doaj +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source