Next Article in Journal
Factors Influencing Production of Fusaristatin A in Fusarium graminearum
Previous Article in Journal
Advances in Electronic-Nose Technologies for the Detection of Volatile Biomarker Metabolites in the Human Breath
Previous Article in Special Issue
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA
Article Menu

Export Article

Open AccessReview
Metabolites 2015, 5(1), 164-183;

Neural Tube Defects: From a Proteomic Standpoint

CRCM, Cell Polarity, Cell signalling and Cancer, Equipe labellisée Ligue Contre le Cancer, Inserm, U1068, Marseille F-13009, France
Institut Paoli-Calmettes, Marseille F-13009, France
Aix-Marseille University, F-13284 Marseille, France
The National Center for Scientific Research, CNRS, UMR7258, F-13009, France
Author to whom correspondence should be addressed.
Academic Editor: Maria Fuller
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)
Full-Text   |   PDF [1303 KB, uploaded 17 March 2015]   |  


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

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Puvirajesinghe, T.M.; Borg, J.-P. Neural Tube Defects: From a Proteomic Standpoint. Metabolites 2015, 5, 164-183.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Metabolites EISSN 2218-1989 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top