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Article

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Journal of cell science - 15 May 2016

Wang Yuexia, Lichter-Konecki Uta, Anyane-Yeboa Kwame, Shaw Jessica E, Lu Jonathan T, Östlund Cecilia, Shin Ji-Yeon, Clark Lorraine N, Gundersen Gregg G, Nagy Peter L, Worman Howard J

Abstract excerpt

In 1994 in the Journal of Cell Science, Hennekes and Nigg reported that changing valine to arginine at the endoproteolytic cleavage site in chicken prelamin A abolishes its conversion to lamin A. The consequences of this mutation in an organism have remained unknown. We now report that the corresponding mutation in a human subject leads to accumulation of prelamin A and causes a progeroid disorder. Next...

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Source

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Identifiers

PMID: 27034136
DOI: 10.1242/jcs.187302
PMCID: PMC4878994

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.PMID 27034136Read ↗

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

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

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

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

Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.Semantic proximity Read ↗

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

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

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

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

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

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.Semantic proximity Read ↗

Lamin A/C, laminopathies and premature ageing.Semantic proximity Read ↗

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