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Article

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

Disease models & mechanisms - 13 Jul 2018

Spear Eric D, Hsu Erh-Ting, Nie Laiyin, Carpenter Elisabeth P, Hrycyna Christine A, Michaelis Susan

Abstract excerpt

The human zinc metalloprotease ZMPSTE24 is an integral membrane protein crucial for the final step in the biogenesis of the nuclear scaffold protein lamin A, encoded by LMNA After farnesylation and carboxyl methylation of its C-terminal CAAX motif, the lamin A precursor (prelamin A) undergoes proteolytic removal of its modified C-terminal 15 amino acids by ZMPSTE24. Mutations in LMNA or ZMPSTE24 that impede this...

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Identifiers

PMID: 29794150
DOI: 10.1242/dmm.033670
PMCID: PMC6078402

Genes

ZMPSTE24
LMNA

Provenance

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ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.PMID 29794150Read ↗

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

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

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.Semantic proximity Read ↗

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

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.Semantic proximity Read ↗

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Semantic proximity Read ↗

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

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

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

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