Cited by 554Nuclear Structure and FunctionSkin and Cellular Biology ResearchGenomics and Rare Diseases

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase–deficient mice

Pendás, Alberto M., Zhou, Zhongjun, Cadiñanos, Juan, Freije, José M.P., Wang, Jianming, Hultenby, Kjell, Astudillo, Aurora, Wernerson, Annika +3 more·2002·Nature Genetics

Abstract

The mouse ortholog of human FACE-1, Zmpste24, is a multispanning membrane protein widely distributed in mammalian tissues and structurally related to Afc1p/ste24p, a yeast metalloproteinase involved in the maturation of fungal pheromones. Disruption of the gene Zmpste24 caused severe growth retardation and premature death in homozygous-null mice. Histopathological analysis of the mutant mice revealed several abnormalities, including dilated cardiomyopathy, muscular dystrophy and lipodystrophy. These alterations are similar to those developed by mice deficient in A-type lamin, a major component of the nuclear lamina, and phenocopy most defects observed in humans with diverse congenital laminopathies. In agreement with this finding, Zmpste24-null mice are defective in the proteolytic processing of prelamin A. This deficiency in prelamin A maturation leads to the generation of abnormalities in nuclear architecture that probably underlie the many phenotypes observed in both mice and humans with mutations in the lamin A gene. These results indicate that prelamin A is a specific substrate for Zmpste24 and demonstrate the usefulness of genetic approaches for identifying the in vivo substrates of proteolytic enzymes.

Integrity signals

Registry

Crossref · 10.1038/ng871

Cites

19 of 19 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Zmpste24 − /− mice exhibit elevated expression of caspase 1 and Nlrp3, severe growth retardation, dilated cardiomyopathy, muscular dystrophy, lipodystrophy and premature death.

    “In addition, two independently generated mouse models deficient in the Zmpste24 gene (Zmpste24 − /− mice) also exhibit elevated expression of caspase 1 and Nlrp3, severe growth retardation, dilated cardiomyopathy, muscular dystrophy, lipodystrophy and premature death.307,308”

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Pendás, A. M., Zhou, Z., Cadiñanos, J., Freije, J. M. P., Wang, J., Hultenby, K., Astudillo, A., Wernerson, A., Rodríguez, F., Tryggvason, K., & López-Otín, C.
Affiliations
  • Universidad de Oviedo (ES)
  • Karolinska Institutet (SE)
  • Hospital Universitario Central de Asturias (ES)
Venue
Nature Genetics
Published
2002-04-01
Volume
31
Issue
1
Pages
94-99
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2036973053
Cited by
554
References
19
Citations by year
2026: 15 · 2025: 8 · 2024: 13 · 2023: 23 · 2022: 17 · 2021: 15 · 2020: 19 · 2019: 25 · 2018: 35 · 2017: 21 · 2016: 20 · 2015: 17 · 2014: 20 · 2013: 34 · 2012: 25
FWCI
7.76
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Funders
  • Swedish Cancer Foundation
  • European Commission
  • Eusko Jaurlaritza
  • Karolinska Institutet
  • Novo Nordisk
  • Comisión Interministerial de Ciencia y Tecnología
  • Novo Nordisk Fonden
  • Medical Research Council
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
ZMPSTE24, lamin A, laminopathies, metalloproteinases, nuclear lamina, dilated cardiomyopathy, muscular dystrophy, lipodystrophy, nuclear organization, growth retardation, substrate identification
MeSH terms
Animals, Cell Nucleus, Female, Humans, Male, Membrane Proteins, Metalloendopeptidases, Mice, Inbred C57BL, Muscles, Myocardium, Nuclear Proteins, Phenotype, Protein Precursors, Protein Processing, Post-Translational, Adipocytes, Mice, Knockout, Lamin Type A, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review