Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System [PDF]
, 2014 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as
ARANCIO, Walter +3 more
core +1 more source
Cardiogenetics, 2020 Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or ...
Giuseppe Limongelli +4 more
doaj +1 more source
From Cellular Characteristics to Disease Diagnosis: Uncovering Phenotypes with Supercells [PDF]
, 2013 Cell heterogeneity and the inherent complexity due to the interplay of multiple molecular processes within the cell pose difficult challenges for current single-cell biology.
Banavar, Jayanth R. +12 more
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Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]
, 2005 The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
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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
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The decision‐making process and criteria in selecting candidate drugs for progeria clinical trials
EMBO Molecular Medicine, 2016 Hutchinson–Gilford progeria syndrome (progeria) is an extremely rare premature aging disease with a population prevalence of 1 in 20 million. Nevertheless, propelled by the discovery of a causal mutation in the lamin A/C gene (LMNA) (De Sandre‐Giovannoli
Leslie B Gordon +3 more
doaj +1 more source
Accumulation of prelamin A compromises NF-kB-regulated B-lymphopoiesis in progeria mouse model. [PDF]
, 2013 published_or_final_versio
Liu, B +5 more
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Vascular cells derived from Hutchinson-Gilford progeria syndrome (HGPS) inducible pluripotent stem cells [PDF]
, 2014 To study the vulnerability of smooth muscle cells (SMCs) in Hutchinson-Gilford Progeria Syndrome (HGPS)
Ferreira, Lino +4 more
core
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome. [PDF]
, 2018 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death.
Abrudan, Monica +17 more
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First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria
Advanced Science, EarlyView.We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Jon Macicior‐Michelena +5 more
wiley +1 more source