Lissencephaly (smooth brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface, manifesting as severe mental retardation. Genetic analysis has identified two proteins that are mutated in some cases of lissencephaly, designated lissencephaly-1 protein (LIS1) and doublecortin. LIS1 displays sequence homology to β-subunits of heterotrimeric G proteins, and doublecortin contains a consensus Abl phosphorylation site. In addition, the DCAMKL1 (doublecortinlike and CAM kinase-like 1) protein shows homology to doublecortin. All three proteins are highly expressed in developing brain and may function together to regulate microtubules involved in neuronal migration. The DCAMKL1 protein encodes a functional kinase that is capable of phosphorylating myelin basic protein and itself, but its kinase activity does not appear to affect its microtubule polymerization activity.
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Număr Catalog 992-ET1704-10CategorieAfaceri și industrie > Știință și laboratorFurnizorHUABIOGentaurDimensiune100ulTipsingle
