期刊
MOLECULAR NEUROBIOLOGY
卷 43, 期 1, 页码 12-26出版社
SPRINGER
DOI: 10.1007/s12035-010-8154-0
关键词
Ciliopathies; Primary cilia; Autosomal recessive conditions; Neurodevelopment; Signaling pathways; Wnt signaling
资金
- Medical Research Council [G0700073]
- Egyptian Government Scholarship
- Sir Jules Thorn Charitable Trust [09/JTA]
- Medical Research Council [G0700073] Funding Source: researchfish
- MRC [G0700073] Funding Source: UKRI
Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder characterized by developmental defects of the central nervous system that comprise neural tube defects that most commonly present as occipital encephalocele. MKS is considered to be the most common syndromic form of neural tube defect. MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia. Primary cilia are microtubule-based organelles that project from the apical surface of most epithelial cell types. Recent progress has implicated the involvement of cilia in the Wnt and Shh signaling pathways and has led to an understanding of their role in normal mammalian neurodevelopment. The aim of this review is to provide an overview of the molecular genetics of the human disorder, and to assess recent insights into the etiology and molecular cell biology of severe ciliopathies from mammalian animal models of MKS.
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