Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations

S Gonzalo, R Kreienkamp, P Askjaer - Ageing research reviews, 2017 - Elsevier
Products of the LMNA gene, primarily lamin A and C, are key components of the nuclear
lamina, a proteinaceous meshwork that underlies the inner nuclear membrane and is …

Hutchinson–Gilford progeria syndrome

NJ Ullrich, LB Gordon - Handbook of clinical neurology, 2015 - Elsevier
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal,
segmental “premature aging” disease in which children exhibit phenotypes that may give us …

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome

LB Gordon, ME Kleinman, DT Miller… - Proceedings of the …, 2012 - National Acad Sciences
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental
premature aging syndrome caused by a mutation in LMNA that produces the farnesylated …

[HTML][HTML] Phenotype and course of Hutchinson–Gilford progeria syndrome

MA Merideth, LB Gordon, S Clauss… - New England journal …, 2008 - Mass Medical Soc
Background Hutchinson–Gilford progeria syndrome is a rare, sporadic, autosomal dominant
syndrome that involves premature aging, generally leading to death at approximately 13 …

[PDF][PDF] A human iPSC model of Hutchinson Gilford Progeria reveals vascular smooth muscle and mesenchymal stem cell defects

J Zhang, Q Lian, G Zhu, F Zhou, L Sui, C Tan… - Cell stem cell, 2011 - cell.com
The segmental premature aging disease Hutchinson-Gilford Progeria syndrome (HGPS) is
caused by a truncated and farnesylated form of Lamin A called progerin. HGPS affects …

Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome

LB Gordon, J Massaro, RB D'Agostino Sr… - Circulation, 2014 - Am Heart Assoc
Background—Hutchinson-Gilford progeria syndrome is an ultrarare segmental premature
aging disease resulting in early death from heart attack or stroke. There is no approved …

Telomerase therapy reverses vascular senescence and extends lifespan in progeria mice

A Mojiri, BK Walther, C Jiang, G Matrone… - European Heart …, 2021 - academic.oup.com
Abstract Aims Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated ageing
syndrome associated with premature vascular disease and death due to heart attack and …

Clinical trial of the protein farnesylation inhibitors lonafarnib, pravastatin, and zoledronic acid in children with Hutchinson-Gilford progeria syndrome

LB Gordon, ME Kleinman, J Massaro… - Circulation, 2016 - Am Heart Assoc
Background: Hutchinson-Gilford progeria syndrome is an extremely rare, fatal, segmental
premature aging syndrome caused by a mutation in LMNA yielding the farnesylated …

[PDF][PDF] Phosphorylated lamin A/C in the nuclear interior binds active enhancers associated with abnormal transcription in progeria

K Ikegami, S Secchia, O Almakki, JD Lieb… - Developmental cell, 2020 - cell.com
LMNA encodes nuclear Lamin A/C that tethers lamina-associated domains (LADs) to the
nuclear periphery. Mutations in LMNA cause degenerative disorders including the …

A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model

BC Capell, M Olive, MR Erdos, K Cao… - Proceedings of the …, 2008 - National Acad Sciences
Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of human
premature aging. Death occurs at a mean age of 13 years, usually from heart attack or …