[HTML][HTML] Defining the progeria phenome

C Worm, MER Schambye, GV Mkrtchyan… - Aging (Albany …, 2024 - ncbi.nlm.nih.gov
… of other hallmarks in general have not been considered leading to a progeria phenotype [4].
However, what constitutes a progeria is not well defined and there are few tools to identify a …

p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson–Gilford progeria syndrome

SM Son, SJ Park, SY Breusegem, D Larrieu… - Nature Cell …, 2024 - nature.com
… in cells from patients with Hutchinson–Gilford progeria syndrome. p300 mislocalization by
the … –Gilford progeria syndrome, causing mTORC1 hyperactivation and defective autophagy. …

Progeria‐based vascular model identifies networks associated with cardiovascular aging and disease

M Ngubo, Z Chen, D McDonald, R Karimpour… - Aging …, 2024 - Wiley Online Library
Hutchinson‐Gilford Progeria syndrome (HGPS) is a lethal premature aging disorder caused
by a de novo heterozygous mutation that leads to the accumulation of a splicing isoform of …

Mitophagy defect mediates the aging‐associated hallmarks in Hutchinson–Gilford progeria syndrome

Y Sun, L Xu, Y Li, S Jia, G Wang, X Cen, Y Xu… - Aging …, 2024 - Wiley Online Library
Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal disease manifested by
premature aging and aging‐related phenotypes, making it a disease model for aging. The …

Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells

I Benedicto, RM Carmona, A Barettino… - Proceedings of the …, 2024 - National Acad Sciences
Hutchinson–Gilford progeria syndrome (HGPS) is a rare disease caused by the expression …
Given that atherosclerosis complications are the main cause of death in progeria, here, we …

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China

J Wang, Q Yu, X Tang, LB Gordon, J Chen, B Jiang… - Pediatric …, 2024 - nature.com
Background Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL)
are extremely rare genetic diseases with extremely poor prognoses. This study aims to …

Doxycycline decelerates aging in progeria mice

M Wang, J Zhang, J Qiu, X Ma, C Xu, Q Wu, S Xing… - Aging …, 2024 - Wiley Online Library
… in progeria mice. Notably, the sensitivity of UPRmt to DOX treatment are different between
progeria … mechanisms underlying the DOX effect in progeria and normal aging. Whether DOX …

[HTML][HTML] Pathogenic hyperactivation of mTORC1 by cytoplasmic EP300 in Hutchinson-Gilford progeria syndrome

L Ferret, G Kroemer, M Djavaheri-Mergny - Cell Stress, 2024 - ncbi.nlm.nih.gov
In a recent issue in Nature Cell Biology, Sung Min Son et al. unveil a novel layer in the
regulation of the mTORC1/autophagy axis by EP300 which can undergo nucleocytoplasmic …

Abnormal Myocardial Deformation Despite Normal Ejection Fraction in Hutchinson‐Gilford Progeria Syndrome

FJ Olsen, T Biering‐Sørensen, F Lunze… - Journal of the …, 2024 - Am Heart Assoc
Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare premature aging disorder
that affects multiple organ systems, but cardiovascular complications are the most frequent …

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome

LB Gordon, S Basso, J Maestranzi, E Aikawa… - Frontiers in …, 2024 - frontiersin.org
… options, the Progeria Aortic Stenosis Interventional … Progeria who give so much of themselves
to participate in research that will ultimately lead to treatments and the cure for Progeria