Indian Journal of Dental Research, 2009 Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke.
Mohamed Riyaz S, Jayachandran S
doaj +4 more sources
Mesenchymal Stem Cell Therapy for Hutchinson–Gilford Progeria: Improvements in Arterial Stiffness and Bone Mineral Density in a Single Case [PDF]
ChildrenBackground/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that cause premature aging due to LMNA mutations and progerin accumulation.
Eun-Young Joo +6 more
doaj +2 more sources
A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation [PDF]
Nature CommunicationsProgeria syndromes are very rare, incurable premature aging conditions recapitulating most aging features. Here, we report a whole genome, multiparametric CRISPR screen, identifying 43 genes that can rescue multiple cellular phenotypes associated with ...
Sophia Y. Breusegem +11 more
doaj +2 more sources
The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]
Open Biology, 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.
Romina Burla +14 more
doaj +5 more sources
Targeting CRM1 for Progeria Syndrome Therapy. [PDF]
Aging CellPharmacological inhibition of CRM1 mediated by selinexor, the first‐in‐class selective inhibitor of CRM1, mitigates the senescent phenotype of Hutchinson‐Gilford progeria syndrome (HGPS) patients‐derived primary fibroblasts. Treatment of HGPS fibroblasts with selinexor promotes the clearances of progerin via autophagy activation, restores the ...
Soto-Ponce A +14 more
europepmc +2 more sources
Aging: Progeria and the Lamin Connection [PDF]
Current Biology, 2006 The relationship between progerias--diseases that resemble premature aging--and the normal aging process has been a source of debate in the aging research community. A recent study finds that LMNA, a gene targeted for mutation in Hutchinson Gilford Progeria Syndrome, may control the onset of aging-associated decline in normal fibroblasts.
Brian A. Kudlow, Brian K. Kennedy
openalex +4 more sources
Epithelial stem cells In Hutchinson-Gilford progeria syndrome [PDF]
, 2015 Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which ...
McKenna, Tomás
core +3 more sources
Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model [PDF]
Frontiers in PhysiologyIntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary.
Indeevar Beeram +13 more
doaj +2 more sources
Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation [PDF]
, 2014 Background - Premature aging syndromes recapitulate many aspects of natural aging and provide an insight into this phenomenon at a molecular and cellular level.
Ashton, Nicholas W. +9 more
core +4 more sources
Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome [PDF]
Frontiers in Cardiovascular MedicineHutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis.
Leslie B. Gordon +30 more
doaj +2 more sources