Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome [PDF]
, 2018 Background: Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). Patients who have HGPS exhibit ubiquitous progerin expression, accelerated aging and atherosclerosis, and ...
Andrés Manzano, María J. +7 more
core +4 more sources
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]
, 2016 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl +14 more
core +5 more sources
The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]
, 2016 AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Astrologo, Letizia +14 more
core +2 more sources
Mammalian telomeres and their partnership with lamins [PDF]
, 2016 Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins.
BURLA, ROMINA +2 more
core +1 more source
Identification of differential protein interactors of lamin A and progerin [PDF]
Nucleus, 2010 The nuclear lamina is an interconnected meshwork of intermediate filament proteins underlying the nuclear envelope. The lamina is an important regulator of nuclear structural integrity as well as nuclear processes, including transcription, DNA replication and chromatin remodeling. The major components of the lamina are A- and B-type lamins.
Kubben, N +6 more
openaire +3 more sources
Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome [PDF]
, 2019 Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations,
Aguado J. +12 more
core +1 more source
Sulforaphane enhances progerin clearance in
Aging Cell, 2014 SummaryHutchinson–Gilford progeria syndrome (HGPS, OMIM 176670) is a rare multisystem childhood premature aging disorder linked to mutations in the LMNA gene. The most common HGPS mutation is found at position G608G within exon 11 of the LMNA gene. This mutation results in the deletion of 50 amino acids at the carboxyl‐terminal tail of prelamin A, and ...
Gabriel, Diana +3 more
openaire +4 more sources
Cells, 2020 Cardiovascular disease (CVD) is the main cause of death worldwide, and aging is its leading risk factor. Aging is much accelerated in Hutchinson−Gilford progeria syndrome (HGPS), an ultra-rare genetic disorder provoked by the ubiquitous expression ...
Lara del Campo +5 more
doaj +1 more source
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. [PDF]
PLoS ONE, 2007 Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT) mutation within exon 11 of
Dayle McClintock +6 more
doaj +1 more source
Genomic instability and DNA replication defects in progeroid syndromes [PDF]
, 2018 Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging.
Chiara Merigliano +4 more
core +1 more source