Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to premature ageing and ageing-associated phenotype. HGPS is caused by mutation in the lamin A (LMNA) gene that leads, in affected young individuals, to the generation of progerin, a splicing mutant of lamin A. A bioinformatics analysis of the LMNA gene network of interactions is presented. Lamin A seems to be involved in epigenetic regulation of transcription, chromatin remodelling, DNA repair, with key roles in stemness regulation, normal ageing and telomere functions. The study suggests particular relevance of chromatin remodellers and histones covalent modifiers in the LMNA network. Specifically, HTATIP histone acetylase seems to be of particular relevance in the network.

arancio, w. (2011). A Bioinformatics Analysis of Lamin A Regulatory Network: a Perspective on Epigenetic Involvement in Hutchinson-Gilford Progeria Syndrome. In Rejuvenation Res. 2011 Aug;14 Suppl 1:S11-45..

A Bioinformatics Analysis of Lamin A Regulatory Network: a Perspective on Epigenetic Involvement in Hutchinson-Gilford Progeria Syndrome

ARANCIO, Walter
2011-01-01

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to premature ageing and ageing-associated phenotype. HGPS is caused by mutation in the lamin A (LMNA) gene that leads, in affected young individuals, to the generation of progerin, a splicing mutant of lamin A. A bioinformatics analysis of the LMNA gene network of interactions is presented. Lamin A seems to be involved in epigenetic regulation of transcription, chromatin remodelling, DNA repair, with key roles in stemness regulation, normal ageing and telomere functions. The study suggests particular relevance of chromatin remodellers and histones covalent modifiers in the LMNA network. Specifically, HTATIP histone acetylase seems to be of particular relevance in the network.
2011
Strategies for Engineered Negligible Senescence (SENS) Fifth Conference. August 31-September 4, 2011. Cambridge, United Kingdom.
cambridge uk
August 31-September 4, 2011.
2011
00
arancio, w. (2011). A Bioinformatics Analysis of Lamin A Regulatory Network: a Perspective on Epigenetic Involvement in Hutchinson-Gilford Progeria Syndrome. In Rejuvenation Res. 2011 Aug;14 Suppl 1:S11-45..
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arancio, w
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/74690
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