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- Progerin abstract "Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a silent point mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids near the C-terminus. Approximately80% of Hutchinson-Gilford progeria syndrome cases are heterozygous for this silent point mutation within exon 11 of the LMNA gene.Lamin A constitutes a major structural component of the lamina, a scaffold of proteins found inside the nuclear membrane of a cell; progerin does not properly integrate into the lamina, which disrupts the scaffold structure and leads to significant disfigurement of the nucleus, characterized by a lobular shape. Progerin activates genes that regulate stem cell differentiation via the Notch signaling pathway.Researchers are exploring farnesyltransferase inhibitors as a potential pharmacological therapy against the negative effects of progerin on nuclear morphology.Recently, rapamycin has been shown to prevent progerin aggregates in cells and hence delay premature aging.Progerin, which has been linked to normal aging, is produced in healthy individuals via \"sporadic use of the cryptic splice site\".".
- Progerin thumbnail Biogenesis_of_lamin_A_in_normal_cells_and_the_failure_to_generate_mature_lamin_A_in_HGPS.jpg?width=300.
- Progerin wikiPageID "18437184".
- Progerin wikiPageLength "3493".
- Progerin wikiPageOutDegree "20".
- Progerin wikiPageRevisionID "700940350".
- Progerin wikiPageWikiLink Ageing.
- Progerin wikiPageWikiLink C-terminus.
- Progerin wikiPageWikiLink Category:Aging-related_proteins.
- Progerin wikiPageWikiLink Category:Human_proteins.
- Progerin wikiPageWikiLink Cell_(biology).
- Progerin wikiPageWikiLink Cellular_differentiation.
- Progerin wikiPageWikiLink Exon.
- Progerin wikiPageWikiLink Farnesyltransferase_inhibitor.
- Progerin wikiPageWikiLink LMNA.
- Progerin wikiPageWikiLink Notch_signaling_pathway.
- Progerin wikiPageWikiLink Nuclear_lamina.
- Progerin wikiPageWikiLink Nuclear_membrane.
- Progerin wikiPageWikiLink Point_mutation.
- Progerin wikiPageWikiLink Progeria.
- Progerin wikiPageWikiLink Protein.
- Progerin wikiPageWikiLink RNA_splicing.
- Progerin wikiPageWikiLink Silent_mutation.
- Progerin wikiPageWikiLink Sirolimus.
- Progerin wikiPageWikiLink Stem_cell.
- Progerin wikiPageWikiLink File:Biogenesis_of_lamin_A_in_normal_cells_and_the_failure_to_generate_mature_lamin_A_in_HGPS.jpg.
- Progerin wikiPageWikiLinkText "progerin".
- Progerin wikiPageUsesTemplate Template:Protein-stub.
- Progerin wikiPageUsesTemplate Template:Reflist.
- Progerin subject Category:Aging-related_proteins.
- Progerin subject Category:Human_proteins.
- Progerin hypernym Version.
- Progerin type Work.
- Progerin comment "Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a silent point mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids near the C-terminus.".
- Progerin label "Progerin".
- Progerin sameAs Q7248344.
- Progerin sameAs m.04f05q7.
- Progerin sameAs Q7248344.
- Progerin wasDerivedFrom Progerin?oldid=700940350.
- Progerin depiction Biogenesis_of_lamin_A_in_normal_cells_and_the_failure_to_generate_mature_lamin_A_in_HGPS.jpg.
- Progerin isPrimaryTopicOf Progerin.