Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells [PDF]
Cells, 2016 Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of the
Nicolas Levy, Claire Navarro
exaly +9 more sources
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells [PDF]
Cells, 2022 Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging.
Nicolas Levy, , Koffi Mawuse Guedenon
exaly +6 more sources
Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS [PDF]
Cells, 2023 Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene.
Bum-Joon Park +2 more
exaly +5 more sources
Farnesyltransferase inhibition in HGPS
Cell, 2021 The ultra-rare, pediatric premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) is caused by mutation of LMNA, encoding the nuclear architectural protein lamin A. Patients develop atherosclerosis and typically die of heart failure in their teens.
Tom Misteli
exaly +4 more sources
Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress [PDF]
Frontiers in PhysiologyIntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a fatal, accelerated-aging disease caused by a mutation in the nuclear envelope protein Lamin A.
Crystal C. Kennedy +3 more
doaj +2 more sources
Single-cell RNA sequencing analysis reveals the critical role of fibroblasts in aortic progeria-associated vascular remodeling in Hutchinson-Gilford progeria syndrome mice [PDF]
Frontiers in ImmunologyBackgroundPatients with Hutchinson-Gilford progeria syndrome (HGPS) typically succumb to cardiovascular diseases in their teens. Although fibroblasts have been implicated in the progression of arteriosclerosis, their roles and mechanisms in progeroid ...
Qian Sun +9 more
doaj +2 more sources
First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria. [PDF]
Adv Sci (Weinh)We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Macicior-Michelena J +5 more
europepmc +2 more sources
Hemoglobinopathies and iron deficiency among Northeast-Thai blood donors deferred for low hemoglobin [PDF]
Scientific ReportsWhile iron deficiency (ID) is well-known as the main reason for low hemoglobin (Hb) deferral among blood donors, the contribution of hemoglobinopathies (HgPs) has been overlooked.
Tassaneewan Chueajetton +3 more
doaj +2 more sources
General anesthesia in patient with Hutchinson-Gilford Progeria syndrome: two case reports of dental treatment in the one patient [PDF]
BMC AnesthesiologyBackground Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that manifests itself in premature aging. Craniofacial and skeletal abnormalities, cardiovascular pathology, concomitant cerebrovascular diseases, and potential airway ...
B. Mankovsky +3 more
doaj +2 more sources
Impact of miR-181a on SIRT1 Expression and Senescence in Hutchinson–Gilford Progeria Syndrome [PDF]
DiseasesBackground/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal genetic disease caused by a silent mutation in the LMNA gene, leading to the production of progerin, a defective prelamin A variant.
Eva-Maria Lederer +5 more
doaj +2 more sources