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Keywords: progeria
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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...
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Biochem Soc Trans (2011) 39 (6): 1715–1718.
Published: 21 November 2011
... blebbing of Hutchinson–Gilford progeria syndrome Proc. Natl. Acad. Sci. U.S.A. 2005 102 12879 12884 3 Corrigan D.P. Kuszczak D. Rusinol A.E. Thewke D.P. Hrycyna C.A. Michaelis S. Sinensky M.S. Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24...
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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...
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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...