Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Human molecular genetics - 15 Aug 2003

Agarwal Anil K, Fryns Jean-Pierre, Auchus Richard J, Garg Abhimanyu

Abstract excerpt

Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atrophy
Share to Lamin Type A
Share to Lipodystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mandible

Share to Metalloendopeptidases

Share to Metalloproteases

Share to Protein Precursors

Share to Sequence Analysis

Source

Identifiers

PMID: 12913070
DOI: 10.1093/hmg/ddg213

Genes

ZMPSTE24
LMNA
RCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12913070-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.PMID 12913070Read ↗

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

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

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

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

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.Semantic proximity Read ↗

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.Semantic proximity Read ↗

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

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

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

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.