Results 221 to 230 of about 27,643 (268)

MeCP2 NID interaction with RNA: implications for Rett syndrome-relevant protein regulation. [PDF]

Hum Mol Genet
Good KV, Strickfaden H, Muhammad T, Vincent JB, Hendzel M, Nelson CJ, Ausió J.   +6 more
europepmc   +1 more source

Atypical social behaviors in mouse models for Rett syndrome. [PDF]

Front Neurol
Acevedo-Triana C, Medeiros D, Lopes Gonçalez J, Li W, Pozzo-Miller L.   +4 more
europepmc   +1 more source

Zespół duplikacji MeCP2

Neurologia Dziecięca, 2013
Jamroz, Ewa, Pyrkosz, Antoni
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MECP2 Duplication Syndrome

The Causes of Epilepsy, 2019
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or ...

semanticscholar   +2 more sources

MeCP2 is a microsatellite binding protein that protects CA repeats from nucleosome invasion

Science, 2021
MeCP2 binds hydroxymethylated CA repeats Despites of decades of research on the Rett syndrome protein MeCP2, its function remains unclear. Ibrahim et al. show that MeCP2 is a hydroxymethylated cytosine-adenosine (CA) repeat-binding protein that modulates
A. Ibrahim, Christophe Papin, K. Mohideen-Abdul, S. Le Gras, I. Stoll, C. Bronner, S. Dimitrov, B. Klaholz, A. Hamiche   +8 more
semanticscholar   +1 more source

MeCP2 for sustained antidepressant effects

Nature Neuroscience, 2021
Ketamine has transformed the treatment of depression by providing rapid relief from depressive symptoms, but the mechanisms mediating its long-term effects are unclear. Kim et al. show that MeCP2 signaling in the hippocampus is critical for supporting sustained antidepressant effects.
Shane Johnson, Conor Liston
openaire   +2 more sources

MECP2 Dysautonomia Phenotypes in Boys

Pediatric Neurology, 2022
Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys. We aimed to explore the prevalence of dysautonomia symptoms in boys with MECP2 mutations.We conducted a national, retrospective study (2000-2020) of medical records from boys who were aged less than 18 years when diagnosed with a ...
Courgeon, Lisa, Uguen, Kévin, Lefranc, Jérémie, Lesca, Gaetan, Ropars, Juliette   +4 more
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Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies.

Lancet Neurology, 2020
The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome.
Alexander J. Sandweiss, Vicky Brandt, H. Zoghbi   +2 more
semanticscholar   +1 more source

LEDGF interacts with the NID of MeCP2 and modulates MeCP2 condensates

Abstract Methyl-CpG-binding protein 2 (MeCP2) is a ubiquitously expressed nuclear protein that is involved in transcriptional regulation and chromatin remodeling. MeCP2 exists in two isoforms, MeCP2 E1 and MeCP2 E2, which share the same functional domains. Loss-of-function mutations in the MeCP2 gene are the main cause of Rett syndrome (
Saskia Lesire, Rodrigo Lata, Yannick Hoogvliets, Kune Herrebosch, Paulien Van De Velde, Anouk Speleers, Frauke Christ, Siska Van Belle, Zeger Debyser   +8 more
openaire   +1 more source

MeCP2 Dysfunction in Humans and Mice

Journal of Child Neurology, 2005
Rett syndrome is a leading cause of postnatal neurodevelopmental regression. Rett syndrome is caused by mutations in MECP2, the gene encoding methyl-CpG binding protein 2. In up to 96% of all classic cases, Rett syndrome cases are caused by mutations or deletions in MECP2.
openaire   +2 more sources