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

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50544

Schweiger,  Susann
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50526

Schneider,  Rainer
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Schweiger, S., & Schneider, R. (2003). The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. BioEssays, 25(4), 356-366. doi:10.1002/bies.10256.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8A79-F
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.