Article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
European journal of human genetics : EJHG - 1 Aug 2015
Barthélémy Florian, Navarro Claire, Fayek Racha, Da Silva Nathalie, Roll Patrice, Sigaudy Sabine, Oshima Junko, Bonne Gisèle, Papadopoulou-Legbelou Kyriaki, Evangeliou Athanasios E, Spilioti Martha, Lemerrer Martine, Wevers Ron A, Morava Eva, Robaglia-Schlupp Andrée, Lévy Nicolas, Bartoli Marc, De Sandre-Giovannoli Annachiara
Abstract excerpt
Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gilford progeria syndrome (HGPS) was the first premature aging syndrome linked to LMNA mutation and its molecular bases...
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