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Review

Neural Tube Defects: From a Proteomic Standpoint

by 1,2,3,4 and 1,2,3,4,*
1
CRCM, Cell Polarity, Cell signalling and Cancer, Equipe labellisée Ligue Contre le Cancer, Inserm, U1068, Marseille F-13009, France
2
Institut Paoli-Calmettes, Marseille F-13009, France
3
Aix-Marseille University, F-13284 Marseille, France
4
The National Center for Scientific Research, CNRS, UMR7258, F-13009, France
*
Author to whom correspondence should be addressed.
Academic Editor: Maria Fuller
Metabolites 2015, 5(1), 164-183; https://doi.org/10.3390/metabo5010164
Received: 10 October 2014 / Revised: 8 February 2015 / Accepted: 4 March 2015 / Published: 17 March 2015
(This article belongs to the Special Issue Inborn Errors of Metabolism)
Neural tube defects (NTDs) are congenital birth defects classified according to their resulting morphological characteristics in newborn patients. Current diagnosis of NTDs relies largely on the structural evaluation of fetuses using ultrasound imaging, with biochemical characterization used as secondary screening tools. The multigene etiology of NTDs has been aided by genetic studies, which have discovered panels of genes mutated in these diseases that encode receptors and cytoplasmic signaling molecules with poorly defined functions. Animal models ranging from flies to mice have been used to determine the function of these genes and identify their associated molecular cascades. More emphasis is now being placed on the identification of biochemical markers from clinical samples and model systems based on mass spectrometry, which open novel avenues in the understanding of NTDs at protein, metabolic and molecular levels. This article reviews how the use of proteomics can push forward the identification of novel biomarkers and molecular networks implicated in NTDs, an indispensable step in the improvement of patient management. View Full-Text
Keywords: neural tube defects; proteomics; planar cell polarity neural tube defects; proteomics; planar cell polarity
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MDPI and ACS Style

Puvirajesinghe, T.M.; Borg, J.-P. Neural Tube Defects: From a Proteomic Standpoint. Metabolites 2015, 5, 164-183. https://doi.org/10.3390/metabo5010164

AMA Style

Puvirajesinghe TM, Borg J-P. Neural Tube Defects: From a Proteomic Standpoint. Metabolites. 2015; 5(1):164-183. https://doi.org/10.3390/metabo5010164

Chicago/Turabian Style

Puvirajesinghe, Tania M., and Jean-Paul Borg. 2015. "Neural Tube Defects: From a Proteomic Standpoint" Metabolites 5, no. 1: 164-183. https://doi.org/10.3390/metabo5010164

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