Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism [PDF]
, 2018 C.L.-O. is supported by grants from the European Union (ERC-2016-ADG, DeAge); Ministerio de Economía y Competitividad (MINECO/FEDER: SAF2014-52413-R and SAF2017-87655-R); Instituto de Salud Carlos III (RTICC); Progeria Research Foundation (PRF2016-66 ...
Bárcena Fernández, Clea +11 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
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
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Orphanet Journal of Rare Diseases, 2010 Children with Progeria can be an inspiration to those who meet them. Mission The Progeria Family Circle is a parents' organisation and network that supports European Progeria children and their families in several ways. The objectives are fourfold: Meetings First, the foundation organises annual meetings for all European children and their ...
openaire +3 more sources
Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits [PDF]
, 2018 Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins.
Ana, Cumano +18 more
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Genetic reduction of mTOR extends lifespan in a mouse model of Hutchinson‐Gilford Progeria syndrome
Aging Cell, 2021 Hutchinson‐Gilford progeria syndrome (HGPS) is a rare accelerated aging disorder most notably characterized by cardiovascular disease and premature death from myocardial infarction or stroke.
W. A. Cabral +8 more
semanticscholar +1 more source
Premature aging of the body - the role of laminopathy [PDF]
Farmacja Polska, 2021 Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska +7 more
doaj +1 more source
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
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Cells, 2021 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that recapitulates many symptoms of physiological aging and precipitates death. Patients develop severe vascular alterations, mainly massive vascular smooth muscle cell loss, vessel ...
I. Benedicto, B. Dorado, V. Andrés
semanticscholar +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
core +5 more sources