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Article

The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

PloS one - 5 Dec 2007

McClintock Dayle, Ratner Desiree, Lokuge Meepa, Owens David M, Gordon Leslie B, Collins Francis S, Djabali Karima

Abstract excerpt

Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT) mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Screening 150 skin biopsies...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18060063
DOI: 10.1371/journal.pone.0001269
PMCID: PMC2092390

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.PMID 18060063Read ↗

Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.Semantic proximity Read ↗

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Unraveling the mysteries of aging through a Hutchinson-Gilford progeria syndrome model.Semantic proximity Read ↗

Towards delineating the chain of events that cause premature senescence in the accelerated aging syndrome Hutchinson-Gilford progeria (HGPS).Semantic proximity Read ↗

Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblastsSemantic proximity Read ↗

Progerin, an Aberrant Spliced form of Lamin A, is a Potential Therapeutic Target for HGPSSemantic proximity Read ↗

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Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

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