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Article

Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.

Journal of anatomy - 1 Nov 2008

de Carlos F, Varela I, Germanà A, Montalbano G, Freije J M P, Vega J A, López-Otin C, Cobo J M

Abstract excerpt

ZMPSTE24 (also called FACE-1) is a zinc-metalloprotease involved in the post-translational processing of prelamin A to mature lamin A, a major component of the nuclear envelope. Mutations in the ZMPSTE24 gene or in that encoding its substrate prelamin A (LMNA) result in a series of human inherite...

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Source

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Identifiers

PMID: 19014358
DOI: 10.1111/j.1469-7580.2008.00970.x
PMCID: PMC2667545

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19014358-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.PMID 19014358Read ↗

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

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Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.Semantic proximity Read ↗

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.Semantic proximity Read ↗

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.Semantic proximity Read ↗

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.Semantic proximity Read ↗

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

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.Semantic proximity Read ↗

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.Semantic proximity Read ↗

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

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Semantic proximity Read ↗

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.Semantic proximity Read ↗

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