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  The Ubiquitin E3 Ligase NOSIP Modulates Protein Phosphatase 2A Activity in Craniofacial Development

Hoffmeister, M., Prelle, C., Küchler, P., Kovacevic, I., Moser, M., Müller-Esterl, W., et al. (2014). The Ubiquitin E3 Ligase NOSIP Modulates Protein Phosphatase 2A Activity in Craniofacial Development. PLOS ONE, 9(12): e116150. doi:10.1371/journal.pone.0116150.

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 Creators:
Hoffmeister, Meike1, Author
Prelle, Carola1, Author
Küchler, Philipp1, Author
Kovacevic, Igor1, Author
Moser, Markus2, Author              
Müller-Esterl, Werner1, Author
Oess, Stefanie1, Author
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1external, ou_persistent22              
2Fässler, Reinhard / Molecular Medicine, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565147              

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Free keywords: INTERACTING PROTEIN; ERYTHROPOIETIN RECEPTOR; VENTRAL FOREBRAIN; OPITZ-SYNDROME; UBIQUITYLATION; SYNTHASE; PHOSPHORYLATION; IDENTIFICATION; MUTATIONS; MICE
 Abstract: Holoprosencephaly is a common developmental disorder in humans characterised by incomplete brain hemisphere separation and midface anomalies. The etiology of holoprosencephaly is heterogeneous with environmental and genetic causes, but for a majority of holoprosencephaly cases the genes associated with the pathogenesis could not be identified so far. Here we report the generation of knockout mice for the ubiquitin E3 ligase NOSIP. The loss of NOSIP in mice causes holoprosencephaly and facial anomalies including cleft lip/palate, cyclopia and facial midline clefting. By a mass spectrometry based protein interaction screen we identified NOSIP as a novel interaction partner of protein phosphatase PP2A. NOSIP mediates the monoubiquitination of the PP2A catalytic subunit and the loss of NOSIP results in an increase in PP2A activity in craniofacial tissue in NOSIP knockout mice. We conclude, that NOSIP is a critical modulator of brain and craniofacial development in mice and a candidate gene for holoprosencephaly in humans.

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Language(s): eng - English
 Dates: 2014
 Publication Status: Published in print
 Pages: 20
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
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Title: PLOS ONE
Source Genre: Journal
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Publ. Info: 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA : PUBLIC LIBRARY SCIENCE
Pages: - Volume / Issue: 9 (12) Sequence Number: e116150 Start / End Page: - Identifier: ISSN: 1932-6203