Missense mutations resulting in type 1 lissencephaly.
Proper human brain formation is dependent upon the integrated activity of multiple genes. Malfunctioning of key proteins results in brain developmental abnormalities. Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or "doublecortex". Here, we will focus on a particular subset of missense mutations in these two genes and their effect on protein structure and function.
Reiner
O
O
Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel. orly.reiner@weizmann.ac.il
Coquelle
F M
FM
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D001921:Brain / Q000002:abnormalities* / Q000254:growth & development / Q000378:metabolism; D001927:Brain Diseases / Q000235:genetics*; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics* / Q000378:metabolism; D017433:Protein Structure, Secondary / Q000235:genetics; D013577:Syndrome
C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human
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