Doubled lifespan and patient‐like pathologies in progeria mice fed high‐fat diet [PDF]
, 2019 Hutchinson-Gilford Progeria Syndrome (HGPS) is a devastating premature aging disease. Mouse models have been instrumental for understanding HGPS mechanisms and for testing therapies, which to date have had only marginal benefits in mice and patients ...
Albert, Carolyn J +10 more
core +2 more sources
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
Scientific Reports, 2017 Hutchison-Gilford Progeria Syndrome (HGPS) is a rare, accelerated aging disorder caused by nuclear accumulation of progerin, an altered form of the Lamin A gene. The primary cause of death is cardiovascular disease at about 14 years. Loss and dysfunction
Leigh Atchison +3 more
doaj +1 more source
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. [PDF]
PLoS ONE, 2016 Compelling evidence suggests that defective DNA damage response (DDR) plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS).
Haoyue Zhang +6 more
doaj +1 more source
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
An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria. [PDF]
PLoS ONE, 2014 Hutchinson-Gillford Progeria Syndrome (HGPS) is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells
Chun-Yin Lo +8 more
doaj +1 more source
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
HGPS (Hutchinson-Gilford -Progeria syndrome)
IP Journal of Surgery and Allied Sciences, 2020 Eight year old male child, born of non- consanguinity presented with complaints of irritability and drowsiness with history of left sided weakness. He was stunted and had hypertension at presentation. Also he had dysmorphic features and skin manifestations with skeletal deformities and muscle wasting.
Santosh Kondekar +4 more
openaire +2 more sources
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun +5 more
core +3 more sources
Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13
Nature Communications, 2020 Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease and smooth muscle cells are the most affected cells in HGPS individuals. Here, the authors report a microfluidics platform with HGPS induced pluripotent stem cells and show that ...
Patricia R. Pitrez +20 more
doaj +1 more source