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 through the lens of transcription

M Prokocimer, R Barkan, Y Gruenbaum - Aging Cell, 2013 - Wiley Online Library
Lamins are nuclear intermediate filaments. In addition to their structural roles, they are
implicated in basic nuclear functions such as chromatin organization, DNA replication …

Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

K Cao, JJ Graziotto, CD Blair, JR Mazzulli… - Science translational …, 2011 - science.org
Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by
premature aging. HGPS is most commonly caused by a de novo single-nucleotide …

Molecular insights into the premature aging disease progeria

S Vidak, R Foisner - Histochemistry and cell biology, 2016 - Springer
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare premature aging
disease presenting many features resembling the normal aging process. HGPS patients die …

Aging and nuclear organization: lamins and progeria

LC Mounkes, CL Stewart - Current opinion in cell biology, 2004 - Elsevier
The discoveries of at least eight human diseases arising from mutations in LMNA, which
encodes the nuclear A-type lamins, have revealed the nuclear envelope as an organelle …

Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review

W Arancio, G Pizzolanti, SI Genovese, M Pitrone… - Gerontology, 2014 - karger.com
Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to
a severe premature ageing phenotype, caused by mutations in the LMNA gene. The LMNA …

Lamin A, farnesylation and aging

S Reddy, L Comai - Experimental cell research, 2012 - Elsevier
Lamin A is a component of the nuclear envelope that is synthesized as a precursor prelamin
A molecule and then processed into mature lamin A through sequential steps of …

Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53

BA Kudlow, MN Stanfel, CR Burtner… - Molecular biology of …, 2008 - Am Soc Cell Biol
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, debilitating disease with early
mortality and rapid onset of aging-associated pathologies. It is linked to mutations in LMNA …

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes

CL Moulson, LG Fong, JM Gardner, EA Farber… - Human …, 2007 - Wiley Online Library
Hutchinson‐Gilford progeria syndrome (HGPS) is a rare precocious aging syndrome caused
by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called …

Hutchinson–Gilford progeria syndrome

RL Pollex, RA Hegele - Clinical genetics, 2004 - Wiley Online Library
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that
causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the …