Journal article
The role of primary cilia in the pathophysiology of neural tube defects
Neurosurgical focus, Vol.33(4), pp.E2-E2
10/01/2012
DOI: 10.3171/2012.6.FOCUS12222
PMID: 23025443
Abstract
Neural tube defects (NTDs) are a set of disorders that occur from perturbation of normal neural development. They occur in open or closed forms anywhere along the craniospinal axis and often result from a complex interaction between environmental and genetic factors. One burgeoning area of genetics research is the effect of cilia signaling on the developing neural tube and how the disruption of primary cilia leads to the development of NTDs. Recent progress has implicated the hedgehog (Hh), wingless-type integration site family (Wnt), and planar cell polarity (PCP) pathways in primary cilia as involved in normal neural tube patterning. A set of disorders involving cilia function, known as ciliopathies, offers insight into abnormal neural development. In this article, the authors discuss the common ciliopathies, such as Meckel-Gruber and Joubert syndromes, that are associated with NTDs, and review cilia-related signaling cascades responsible for mammalian neural tube development. Understanding the contribution of cilia in the formation of NTDs may provide greater insight into this common set of pediatric neurological disorders. (http://thejns.org/doi/abs/10.3171/2012.6.FOCUS12222)
Details
- Title: Subtitle
- The role of primary cilia in the pathophysiology of neural tube defects
- Creators
- Timothy W. Vogel - Boston Children's HospitalCalvin S. Carter - 2Graduate Program in Neuroscience,Kingsley Abode-Iyamah - University of IowaQihong Zhang - 2Graduate Program in Neuroscience,Shenandoah Robinson - Boston Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Neurosurgical focus, Vol.33(4), pp.E2-E2
- Publisher
- Amer Assoc Neurological Surgeons
- DOI
- 10.3171/2012.6.FOCUS12222
- PMID
- 23025443
- ISSN
- 1092-0684
- eISSN
- 1092-0684
- Number of pages
- 8
- Language
- English
- Date published
- 10/01/2012
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Stead Family Department of Pediatrics; Radiation Oncology; Neuroscience and Pharmacology
- Record Identifier
- 9984303856602771
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