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Article

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

Journal of medical genetics - 1 Jun 2005

Shackleton S, Smallwood D T, Clayton P, Wilson L C, Agarwal A K, Garg A, Trembath R C

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Share to Cell Nucleus
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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: 15937076
DOI: 10.1136/jmg.2004.029751
PMCID: PMC1736080

Genes

ZMPSTE24

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.PMID 15937076Read ↗

Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in mice.Semantic proximity Read ↗

Abolishing the prelamin A ZMPSTE24 cleavage site leads to progeroid phenotypes with near-normal longevity in miceSemantic proximity Read ↗

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.Semantic proximity Read ↗

Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.Semantic proximity Read ↗

Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.Semantic proximity Read ↗

Phenotypic heterogeneity of ZMPSTE24 deficiency.Semantic proximity Read ↗

Cleavage Site Specificity for Processing of Farnesylated Prelamin A by the Zinc Metalloprotease ZMPSTE24Semantic proximity Read ↗

ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.Semantic proximity Read ↗

Defining Substrate Requirements for Cleavage of Farnesylated Prelamin A by the Integral Membrane Zinc Metalloprotease ZMPSTE24Semantic proximity Read ↗

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.Semantic proximity Read ↗

<i>ZMPSTE24</i> Missense Mutations that Cause Progeroid Diseases Decrease Prelamin A Cleavage Activity and/or Protein StabilitySemantic proximity Read ↗

Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency.Semantic proximity Read ↗

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