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Article

Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.

Science translational medicine - 29 Jun 2011

Cao Kan, Graziotto John J, Blair Cecilia D, Mazzulli Joseph R, Erdos Michael R, Krainc Dimitri, Collins Francis S

Abstract excerpt

Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the...

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Identifiers

PMID: 21715679
DOI: 10.1126/scitranslmed.3002346

Genes

LMNA

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Related research

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Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.PMID 21715679Read ↗

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Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.Semantic proximity Read ↗

MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromesSemantic proximity Read ↗

All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype.Semantic proximity Read ↗

Neuropeptide Y Enhances Progerin Clearance and Ameliorates the Senescent Phenotype of Human Hutchinson-Gilford Progeria Syndrome CellsSemantic proximity Read ↗

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

[Progerin and Its Role in Accelerated and Natural Aging].Semantic proximity Read ↗

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

The JAK1/2 inhibitor ruxolitinib delays premature aging phenotypes.Semantic proximity Read ↗

Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype.Semantic proximity Read ↗

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