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Keywords: progeria
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Biochem Soc Trans (2020) 48 (3): 981–991.
Published: 15 June 2020
... and replication and to regulate nucleocytoplasmic transport. Perturbations or mutations in various components of the nuclear lamina result in a large spectrum of human diseases collectively called laminopathies. One of the most well-characterized laminopathies is Hutchinson–Gilford progeria (HGPS), a rare...
Biochem Soc Trans (2017) 45 (6): 1279–1293.
Published: 10 November 2017
...Charlotte Strandgren; Gwladys Revêchon; Agustín Sola Carvajal; Maria Eriksson Hutchinson-Gilford progeria syndrome (HGPS, progeria) is an extremely rare premature aging disorder affecting children, with a disease incidence of ∼1 in 18 million individuals. HGPS is usually caused by a de novo point...
Biochem Soc Trans (2011) 39 (6): 1715–1718.
Published: 21 November 2011
... [ 39 , 40 ]. Expression of progerin and prelamin A have also been linked to cellular senescence and aging in normal individuals [ 27 , 41 ]. It is therefore important to understand whether the mechanisms underlying the impaired DDR in laminopathy progerias also underlie the accumulation of persistent...
Biochem Soc Trans (2011) 39 (6): 1710–1714.
Published: 21 November 2011
... described to cause HGPS (Hutchinson–Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have facilitated the identification of the molecular alterations and regulatory pathways involved in progeria...
Biochem Soc Trans (2011) 39 (6): 1775–1779.
Published: 21 November 2011
...Xavier Nissan; Sophie Blondel; Marc Peschanski Progeria, also known as HGPS (Hutchinson–Gilford progeria syndrome), is a rare fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (C1804T) of the gene...