Results 61 to 70 of about 27,643 (268)

MeCP2 links heterochromatin condensates and neurodevelopmental disease

Nature, 2020
Methyl CpG binding protein 2 (MeCP2) is a key component of constitutive heterochromatin, which is crucial for chromosome maintenance and transcriptional silencing1–3.
Charles H. Li, Eliot L. Coffey, Alessandra Dall’Agnese, N. Hannett, Xin Tang, J. Henninger, J. Platt, Ozgur Oksuz, A. Zamudio, Lena K. Afeyan, J. Schuijers, X. Liu, S. Markoulaki, T. Lungjangwa, G. Leroy, Devon S. Svoboda, E. Wogram, T. Lee, R. Jaenisch, R. Young   +19 more
semanticscholar   +1 more source

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Translational Psychiatry, 2022
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a global transcriptional regulator.
Rebecca S. F. Mok, Wen-Bo Zhang, Taimoor I. Sheikh, Kartik Pradeepan, Isabella R Fernandes, Leah C. DeJong, Gabriel B. Benigno, Matthew R. Hildebrandt, Marat Mufteev, D. C. Rodrigues, Wei Wei, A. Piekna, Jiajie Liu, A. Muotri, J. Vincent, L. Muller, J. Martinez-Trujillo, M. Salter, J. Ellis   +18 more
semanticscholar   +1 more source

Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome

Science Translational Medicine, 2021
Antisense oligonucleotides are efficacious and safe in a humanized mouse model of MECP2 duplication syndrome. A SOlution for MDS in humanized mice MECP2 duplication syndrome (MDS) is a genetic disorder characterized by severe intellectual disability ...
Ying-Yao Shao, Yehezkel Sztainberg, Qi Wang, Sameer S. Bajikar, Alexander J. Trostle, Y. Wan, P. Jafar-nejad, F. Rigo, Zhan-Dong Liu, Jian-Rong Tang, H. Zoghbi   +10 more
semanticscholar   +1 more source

The Many Faces of MeCP2 [PDF]

Neuropsychopharmacology, 2011
Methyl-CpG-binding protein 2 (MeCP2) is an X-linked transcription factor that binds to methylated CpG dinucleotides in the genome. Its primary function was originally thought to be limited to repression of gene transcription in keeping with the transcriptional silence of methylated genes. CpG methylation is a hallmark of epigenetic regulation of genome
openaire   +2 more sources

Intrinsic and extrinsic regulation of MeCP2 in brain cell types and their implications in MeCP2-related neurodevelopmental disorders [PDF]

, 2015
MeCP2 is a key epigenetic regulator in the brain, which regulates gene expression. There are two Mecp2/MeCP2 isoforms - MeCP2E1 and MeCP2E2 - with both overlapping and non-overlapping expression and functions in the brain.
Batuwita Liyanage, Vichithra Rasangi
core   +3 more sources

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

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice [PDF]

, 2013
Typical Rett syndrome (RTT) is a pediatric disorder caused by loss-of-function mutations in the methyl-CpG binding protein 2 (MECP2) gene. The demonstrated reversibility of RTT-like phenotypes in mice suggests that MECP2 gene replacement is a potential ...
Gadalla, K.K.E., Ross, Paul D, Deng, Jie V, Spike, Rosemary C, Bailey, M.E.S., Spike, R.C., Gray, S.J., West, Anne E, Bachaboina, L., Cobb, S.R., Woodard, Kenton T, Gray, Steven J, Woodard, K.T., Kalburgi, Sahana Nagabhushan, Ross, P., Deng, J.V., Samulski, R.J., Bailey, Mark ES, Samulski, R Jude, Kalburgi, S.N., Bachaboina, Lavanya, West, A.E., Gadalla, Kamal KE, Cobb, Stuart R   +23 more
core   +1 more source

MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP-Smad signaling.

Cell Reports, 2021
Rett syndrome (RTT) is a severe neurological disorder, with impaired brain development caused by mutations in MECP2; however, the underlying mechanism remains elusive.
Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Takuya Imamura, C. A. Trujillo, Masataka Ishizu, Masahiro Uesaka, Miao Pan, Hirofumi Noguchi, Kanako Okada, Kei Aoyagi, Tomoko Andoh-Noda, H. Okano, A. Muotri, K. Nakashima   +14 more
semanticscholar   +1 more source

Monoamine and monoamine metabolite levels in various brain regions of wild-type (Mecp2^+/+) and Mecp2-deficient (Mecp2^+/−) female rats.

, 2021
Monoamine and monoamine metabolite levels in various brain regions of wild-type (Mecp2+/+) and Mecp2-deficient (Mecp2+/−) female rats.
Hidefumi Fukumitsu (3160863), Jun Imai (2669314), Takahiko Nagase (11592424), Hitomi Soumiya (3160866), Hiroyuki Kobayashi (148963), Hiroyasu Murasawa (8796533)   +5 more
core   +1 more source

The yin and yang of MeCP2 phosphorylation [PDF]

Proceedings of the National Academy of Sciences, 2009
Studies of the childhood neurological disorder Rett syndrome and methyl-CpG-binding protein 2 (MeCP2) taught us that MeCP2 performs a balancing act in modulating neurological functions. Rett syndrome, characterized by cognitive deficits, motor impairments, autistic-like features, seizures, and stereotyped repetitive hand movements is caused by loss of ...
Hsiao-Tuan, Chao, Huda Y, Zoghbi
openaire   +2 more sources