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Article

The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.

BioEssays : news and reviews in molecular, cellular and developmental biology - 1 Apr 2003

Schweiger Susann, Schneider Rainer

Abstract excerpt

Opitz BBB/G syndrome is a monogenic disorder that is characterized by malformations of the ventral midline. Investigations into the underlying genetic defects and the pathobiochemistry of this syndrome have already shed light on the mechanisms of both the physiological and the pathological develo...

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Source

Identifiers

PMID: 12655643
DOI: 10.1002/bies.10256

Genes

MID1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12655643-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.PMID 12655643Read ↗

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.Semantic proximity Read ↗

The MID1 protein is a central player during development and in disease.Semantic proximity Read ↗

Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A.Semantic proximity Read ↗

Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.Semantic proximity Read ↗

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.Semantic proximity Read ↗

The MID1 gene product in physiology and disease.Semantic proximity Read ↗

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.Semantic proximity Read ↗

Mechanism of midline defect-causing mutation P151L in MID1 revealed.Semantic proximity Read ↗

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.Semantic proximity Read ↗

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersSemantic proximity Read ↗

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.Semantic proximity Read ↗

The Opitz syndrome gene product, MID1, associates with microtubules.Semantic proximity Read ↗

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