...Destynie Medeiros; Karen Ayala-Baylon; Hailey Egido-Betancourt; Eric Miller; Christopher Chapleau; Holly Robinson; Mary L. Phillips; Tao Yang; Frank M. Longo; Wei Li; Lucas Pozzo-Miller ABSTRACT Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in MECP2 , which encodes methyl...

... syndrome (RTT), a severe neurodevelopmental disorder caused by loss-of-function mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Previous studies from this and other laboratories have shown that enhancing BDNF expression and/or TrkB activation in Mecp2 -deficient mouse models...

...M. van der Vaart; O. Svoboda; B. G. Weijts; R. Espín-Palazón; V. Sapp; T. Pietri; M. Bagnat; A. R. Muotri; D. Traver ABSTRACT Mutations in MECP2 cause Rett syndrome, a severe neurological disorder with autism-like features. Duplication of MECP2 also causes severe neuropathology. Both diseases...

...Wei Li; Alba Bellot-Saez; Mary L. Phillips; Tao Yang; Frank M. Longo; Lucas Pozzo-Miller ABSTRACT Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein-2 ( MECP2 ), a transcriptional regulator of many genes, including brain-derived neurotrophic...

.... References Amir   R. E. , Van den Veyver   I. B. , Wan   M. , Tran   C. Q. , Francke   U. , Zoghbi   H. Y. ( 1999 ). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 . Nat. Genet.   23 , 185 – 188 . Applegate   C. D. , Samoriski...

... encoding methyl-CpG-binding protein 2 (MeCP2). In Mecp2 mutant mice, BDNF deficits have been associated with breathing abnormalities, a core feature of RTT, as well as with synaptic hyperexcitability within the brainstem respiratory network. Application of BDNF can reverse hyperexcitability in acute...