Results 41 to 50 of about 33,901 (278)

Modeling Autistic Features in Animals [PDF]

, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome

eLife, 2020
Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles since MECP2 is expressed throughout the brain and its ...
Mirko Luoni, Serena Giannelli, Marzia Tina Indrigo, Antonio Niro, Luca Massimino, Angelo Iannielli, Laura Passeri, Fabio Russo, Giuseppe Morabito, Piera Calamita, Silvia Gregori, Benjamin Deverman, Vania Broccoli   +12 more
doaj   +1 more source

Adult Neural Function Requires MeCP2 [PDF]

Science, 2011
An epigenetic program regulated by MeCP2 needs to be maintained throughout life for normal neurological function.
Christopher M, McGraw, Rodney C, Samaco, Huda Y, Zoghbi   +2 more
openaire   +2 more sources

Genome-wide redistribution of MeCP2 in dorsal root ganglia after peripheral nerve injury. [PDF]

, 2016
BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2), a protein with affinity for methylated cytosines, is crucial for neuronal development and function. MeCP2 regulates gene expression through activation, repression and chromatin remodeling.
Ajit, Seena K., Ertel, Adam, Manners, Melissa T., Tian, Yuzhen   +3 more
core   +5 more sources

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice [PDF]

, 2014
Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological ...
Chahrour, Maria H, Heckman, Laura Dean, Zoghbi, Huda Y   +2 more
core   +1 more source

Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements.

PLoS ONE, 2014
MeCP2 is a critical epigenetic regulator in brain and its abnormal expression or compromised function leads to a spectrum of neurological disorders including Rett Syndrome and autism.
Carl O Olson, Robby M Zachariah, Chinelo D Ezeonwuka, Vichithra R B Liyanage, Mojgan Rastegar   +4 more
doaj   +1 more source

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome

Journal of Integrative Neuroscience, 2022
Background: Rett syndrome is a rare genetic neurological syndrome that affects mostly females. The syndrome leads to severe impairments impacting all areas of the affected persons' life, including speech, mobility, eating, and breathing impairments.
Alen Kapel, Tine Kovacic, Natasa Kos, Tomaz Velnar   +3 more
doaj   +1 more source

MeCP2 Functions Largely Cell-Autonomously, but Also Non-Cell-Autonomously, in Neuronal Maturation and Dendritic Arborization of Cortical Pyramidal Neurons [PDF]

, 2013
Rett syndrome is a human neurodevelopmental disorder presenting almost exclusively in female infants; it is the second most common cause of mental retardation in girls, after Down’s syndrome.
Kishi, Noriyuki, Macklis, Jeffrey Daniel
core   +1 more source

MeCP2: Phosphorylated Locally, Acting Globally [PDF]

Neuron, 2011
In this issue of Neuron, Greenberg and colleagues revise our understanding of how activity-dependent MeCP2 phosphorylation regulates distinct aspects of brain development and circuit function. The study also suggests a prominent role for MeCP2 in the regulation of global chromatin state in vivo.
Rutlin, Michael, Nelson, Sacha B.
openaire   +2 more sources

MeCP2 dependent heterochromatin reorganization during neural differentiation of a novel Mecp2-deficient embryonic stem cell reporter line.

PLoS ONE, 2012
The X-linked Mecp2 is a known interpreter of epigenetic information and mutated in Rett syndrome, a complex neurological disease. MeCP2 recruits HDAC complexes to chromatin thereby modulating gene expression and, importantly regulates higher order ...
Bianca Bertulat, Maria Luigia De Bonis, Floriana Della Ragione, Anne Lehmkuhl, Manuela Milden, Christian Storm, K Laurence Jost, Simona Scala, Brian Hendrich, Maurizio D'Esposito, M Cristina Cardoso   +10 more
doaj   +1 more source