Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
1-Alkyl-2-acetylglycerophosphocholine Esterase
-
Brain / abnormalities*
-
Brain / growth & development
-
Brain / metabolism
-
Brain Diseases / genetics*
-
Doublecortin Domain Proteins
-
Doublecortin Protein
-
Humans
-
Microtubule-Associated Proteins / genetics*
-
Microtubule-Associated Proteins / metabolism
-
Mutation, Missense / genetics*
-
Nervous System Malformations / genetics
-
Neuropeptides / genetics*
-
Neuropeptides / metabolism
-
Protein Structure, Secondary / genetics
-
Syndrome
Substances
-
DCX protein, human
-
Doublecortin Domain Proteins
-
Doublecortin Protein
-
Microtubule-Associated Proteins
-
Neuropeptides
-
1-Alkyl-2-acetylglycerophosphocholine Esterase
-
PAFAH1B1 protein, human