Article
Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes.
Human molecular genetics - 15 Oct 2016
Ross Paul D, Guy Jacky, Selfridge Jim, Kamal Bushra, Bahey Noha, Tanner K Elizabeth, Gillingwater Thomas H, Jones Ross A, Loughrey Christopher M, McCarroll Charlotte S, Bailey Mark E S, Bird Adrian, Cobb Stuart
Abstract excerpt
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether...
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