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Updated: Jul 30, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome
Susann Schweiger1, Rainer Schneider
1Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany. schweiger@molgen.mpg.de
Abstract:
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 development of the ventral midline, a complicated multistep process. Moreover, these studies have revealed the ubiquitin-dependent regulation of microtubule-associated phosphatase 2A, a central mechanism in many cellular processes. In this review, we summarize recent findings and speculate upon their implications for both medical and general research.
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