The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature
10.1016/s0022-3476(72)80229-4 · 1972
Phenotype and course of Hutchinson-Gilford progeria syndrome
10.1056/nejmoa0706898 · 2008
Lamin a truncation in Hutchinson-Gilford progeria
10.1126/science.1084125 · 2003
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
10.1038/nature01629 · 2003
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
10.1073/pnas.83.17.6450 · 1986
Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
10.1038/319463a0 · 1986
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
10.1016/s0021-9258(19)85424-8 · 1993
The molecular architecture of lamins in somatic cells
10.1038/nature21382 · 2017
Isoprenylation is required for the processing of the lamin A precursor
10.1083/jcb.110.5.1489 · 1990
The processing pathway of prelamin A
10.1242/jcs.107.1.61 · 1994
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
10.1073/pnas.192460799 · 2002
Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice
10.1038/ng871 · 2002
Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24
10.1042/bj20041359 · 2005
Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis
10.1016/j.exger.2004.02.002 · 2004
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
10.1073/pnas.0402943101 · 2004
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
10.1186/1471-2121-6-27 · 2005
Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation
10.1073/pnas.0504641102 · 2005
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes
10.1073/pnas.0505767102 · 2005
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
10.1073/pnas.0506001102 · 2005
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome
10.1073/pnas.0503712102 · 2005
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
10.1093/hmg/ddi326 · 2005
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation
10.1172/jci28968 · 2006
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model
10.1073/pnas.0807840105 · 2008
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome
10.1073/pnas.1202529109 · 2012
Association of lonafarnib treatment vs no treatment with mortality rate in patients with Hutchinson-Gilford progeria syndrome
10.1001/jama.2018.3264 · 2018
FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies
10.1016/j.gim.2022.11.003 · 2023
Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome
10.1038/nm1204 · 2005
Splicing-directed therapy in a new mouse model of human accelerated aging
10.1126/scitranslmed.3002847 · 2011
Modulation of LMNA splicing as a strategy to treat prelamin A diseases
10.1172/jci85908 · 2016
Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin
10.1080/19491034.2025.2611484 · 2026
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition
10.1016/j.nmd.2006.03.014 · 2006
Materials and extracellular matrix rigidity highlighted in tissue damages and diseases: implication for biomaterials design and therapeutic targets
2022
Remodeling and homeostasis of the extracellular matrix: implications for fibrotic diseases and cancer
10.1242/dmm.004077 · 2011
Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation
10.1126/science.1240104 · 2013
Nuclear membrane ruptures underlie the vascular pathology in a mouse model of Hutchinson-Gilford progeria syndrome
10.1172/jci.insight.151515 · 2021
Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome
10.1126/scitranslmed.aat7163 · 2018
Progerin in muscle leads to thermogenic and metabolic defects via impaired calcium homeostasis
10.1111/acel.13090 · 2020
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
10.1093/hmg/ddn136 · 2008
Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome
10.4161/nucl.1.5.12972 · 2010
Short promoters in viral vectors drive selective expression in mammalian inhibitory neurons, but do not restrict activity to specific inhibitory cell-types
2009
