The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
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.
Schweiger
Susann
S
Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany. schweiger@molgen.mpg.de
Schneider
Rainer
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism*; D005314:Embryonic and Fetal Development; D006801:Humans; D008025:Ligases / Q000235:genetics / Q000378:metabolism*; D046911:Macromolecular Substances; D008868:Microtubule Proteins; D009154:Mutation; D009432:Neural Crest / Q000502:physiology; D009687:Nuclear Proteins; D010749:Phosphoprotein Phosphatases / Q000235:genetics / Q000378:metabolism*; D054648:Protein Phosphatase 2; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*; D025801:Ubiquitin / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases
D046911:Macromolecular Substances; D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D025801:Ubiquitin; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases; D010749:Phosphoprotein Phosphatases; D054648:Protein Phosphatase 2; D008025:Ligases