All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Philipp Reautschnig, Carolin Fruhner, Nicolai Wahn, Charlotte P Wiegand, Sabrina Kragness, John F Yung, Daniel T Hofacker, Jenna Fisk, Michelle Eidelman, Nils Waffenschmidt, Maximilian Feige, Laura S Pfeiffer, Annika E Schulz, Yvonne Füll, Erez Y Levanon, Gail Mandel, Thorsten Staffors. Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA. Nature biotechnology. 2024-07-12. PMID:38997581. virus-mediated delivery of the guide rna alone realizes functional mecp2 protein restoration in the central nervous system of a murine rett syndrome model with editing yields of up to 19% and excellent bystander control in vivo. 2024-07-12 2024-07-15 Not clear
Tal David Berger, Chen Fogel Berger, Sewar Gara, Bruria Ben-Zeev, Batia Weis. Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up. European journal of pediatrics. 2024-07-03. PMID:38960904. rett syndrome is a rare neurodevelopmental disorder associated with methyl cpg binding protein 2 (mecp2) gene mutations. 2024-07-03 2024-07-10 Not clear
Emilie Audouard, Nicolas Khefif, Béatrix Gillet-Legrand, Fanny Nobilleau, Ouafa Bouazizi, Serena Stanga, Gaëtan Despres, Sandro Alves, Antonin Lamazière, Nathalie Cartier, Françoise Pigue. Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome. Pharmaceutics. vol 16. issue 6. 2024-06-27. PMID:38931878. rett syndrome (rtt) is a rare neurodevelopmental disorder caused by mutation in the x-linked gene methyl-cpg-binding protein 2 (mecp2), a ubiquitously expressed transcriptional regulator. 2024-06-27 2024-06-29 Not clear
Hong-Wei Dong, Kelly Weiss, Kathryn Baugh, Mac J Meadows, Colleen M Niswender, Jeffrey L Neu. Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2024-06-16. PMID:38880672. rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in the x chromosome-linked gene methyl-cpg binding protein 2 (mecp2). 2024-06-16 2024-06-19 mouse
Kathleen J Motil, Arthur Beisang, Constance Smith-Hicks, Anthony Lembo, Shannon M Standridge, Edwin Li. Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in rett syndrome. Expert review of gastroenterology & hepatology. 2024-06-13. PMID:38869952. although gastrointestinal (gi) comorbidities are experienced by over 90% of individuals with rett syndrome (rtt), a neurodevelopmental disorder associated with mutations in the mecp2 gene, many neurologists and pediatricians do not rank the management of these comorbidities among the most important treatment goals for rtt. 2024-06-13 2024-06-16 Not clear
Valeria Cordon. Biochemical and molecular determinants of the subclinical inflammatory mechanisms in Rett syndrome. Archives of biochemistry and biophysics. vol 757. 2024-06-02. PMID:38815782. to date, rett syndrome (rtt), a genetic disorder mainly caused by mutations in the x-linked mecp2 gene, is increasingly considered a broad-spectrum pathology, instead of just a neurodevelopmental disease, due to the multitude of peripheral co-morbidities and the compromised metabolic pathways, affecting the patients. 2024-06-02 2024-06-05 Not clear
María Galán-Olleros, Elena González-Alguacil, Víctor Soto-Insuga, María Teresa Vara-Arias, Nelmar Valentina Ortiz-Cabrera, J Ignacio Serrano, Rosa M Egea-Gámez, Juan José García-Peñas, Ignacio Martínez-Caballer. Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients. Journal of autism and developmental disorders. 2024-05-25. PMID:38795288. orthopedic conditions and interplay with functional abilities and mecp2 variant subtype in rett syndrome patients. 2024-05-25 2024-05-27 Not clear
María Galán-Olleros, Elena González-Alguacil, Víctor Soto-Insuga, María Teresa Vara-Arias, Nelmar Valentina Ortiz-Cabrera, J Ignacio Serrano, Rosa M Egea-Gámez, Juan José García-Peñas, Ignacio Martínez-Caballer. Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients. Journal of autism and developmental disorders. 2024-05-25. PMID:38795288. rett syndrome (rtt) is a rare multi-systemic disorder primarily linked to mutations in mecp2 gene. 2024-05-25 2024-05-27 Not clear
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-Mille. A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice. Disease models & mechanisms. vol 17. issue 6. 2024-05-24. PMID:38785269. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in mecp2, which encodes methyl-cpg-binding protein 2, a transcriptional regulator of many genes, including brain-derived neurotrophic factor (bdnf). 2024-05-24 2024-05-27 mouse
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstron. Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience. 2024-05-15. PMID:38746988. rett syndrome (rtt) is mainly triggered by loss of function mutations in mecp2 and is a well described syndrome that presents id, epilepsy, lack of purposeful hand use and impaired speech, among others. 2024-05-15 2024-05-27 human
Indumathy Jagadeeswaran, Jiyoung Oh, Sarah E Sinnet. Preclinical milestones in MECP2 gene transfer for treating Rett syndrome. Developmental neuroscience. 2024-05-09. PMID:38723617. preclinical milestones in mecp2 gene transfer for treating rett syndrome. 2024-05-09 2024-05-27 mouse
Indumathy Jagadeeswaran, Jiyoung Oh, Sarah E Sinnet. Preclinical milestones in MECP2 gene transfer for treating Rett syndrome. Developmental neuroscience. 2024-05-09. PMID:38723617. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). 2024-05-09 2024-05-27 mouse
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayash. Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. Stem cell research. vol 77. 2024-05-04. PMID:38703668. generation of human induced pluripotent stem cell lines derived from four rett syndrome patients with mecp2 mutations. 2024-05-04 2024-05-07 human
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayash. Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. Stem cell research. vol 77. 2024-05-04. PMID:38703668. since the molecular pathogenesis caused by mecp2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for rett syndrome. 2024-05-04 2024-05-07 human
Yi Liu, Anthony Flamier, George W Bell, Annette Jun Diao, Troy W Whitfield, Hao-Che Wang, Yizhe Wu, Fabian Schulte, Max Friesen, Ruisi Guo, Maisam Mitalipova, X Shawn Liu, Seychelle M Vos, Richard A Young, Rudolf Jaenisc. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Neuron. 2024-05-02. PMID:38697112. mutations in the methyl-dna-binding protein mecp2 cause the neurodevelopmental disorder rett syndrome (rtt). 2024-05-02 2024-05-05 human
Gabriel D Rodrigues, Ramona Cordani, Marco Veneruso, Lorenzo Chiarella, Giulia Prato, Raffaele Ferri, Angelica Carandina, Eleonora Tobaldini, Lino Nobili, Nicola Montan. Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome. Sleep medicine. vol 119. 2024-05-01. PMID:38692221. rett syndrome (rtt) is a rare neurological disorder primarily associated with mutations in the methyl-cpg-binding protein 2 (mecp2) gene. 2024-05-01 2024-05-04 human
Ling Liu, Hai Nguyen, Urmi Das, Samuel Ogunsola, Jiankun Yu, Lei Lei, Matthew Kung, Shervin Pejhan, Mojgan Rastegar, Jiuyong Xi. Epigenetic control of adaptive or homeostatic splicing during interval-training activities. Nucleic acids research. 2024-04-25. PMID:38661216. the nature of these splicing responses depends on the exon's dna methylation status, the methyl-c-binding protein mecp2 and its associated ca-rich motif-binding hnrnp l. interestingly, the steady expression of the prolactin gene is also reliant on mecp2, whose disruption leads to exacerbated multi-exon aberrant splicing and overexpression of the hormone gene transcripts upon itd, similar to the observed hyperprolactinemia or activity-dependent aberrant splicing in rett syndrome. 2024-04-25 2024-04-28 Not clear
Hyeon-Yeol Cho, Myungsik Yoo, Thanapat Pongkulapa, Hudifah Rabie, Alysson R Muotri, Perry T Yin, Jeong-Woo Choi, Ki-Bum Le. Magnetic Nanoparticle-Assisted Non-Viral CRISPR-Cas9 for Enhanced Genome Editing to Treat Rett Syndrome. Advanced science (Weinheim, Baden-Wurttemberg, Germany). 2024-04-22. PMID:38647391. to demonstrate the feasibility of the developed technology, mage is applied to correct the mutated mecp2 gene in induced pluripotent stem cell-derived neural progenitor cells (ipsc-npcs) from a rett syndrome patient. 2024-04-22 2024-04-26 human
Michael James Flynn, Acacia M Mayfield, Rongrong Du, Viviana Gradinaru, Michael B Elowit. Synthetic dosage-compensating miRNA circuits for quantitative gene therapy. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559034. for example, loss of mecp2 function causes rett syndrome, while its duplication causes mecp2 duplication syndrome. 2024-04-01 2024-04-04 mouse
Michael James Flynn, Acacia M Mayfield, Rongrong Du, Viviana Gradinaru, Michael B Elowit. Synthetic dosage-compensating miRNA circuits for quantitative gene therapy. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559034. here, we introduce a compact mirna-based, incoherent feed-forward loop circuit that achieves precise control of mecp2 expression in cells and brains, and improves outcomes in an aav-based mouse model of rett syndrome gene therapy. 2024-04-01 2024-04-04 mouse