All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Priscila Frayre, Karen Ponce-Rubio, Jessica Frayre, Jacquelin Medrano, Elisa Sun N. POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet. Behavioural brain research. 2024-01-15. PMID:38224819. methyl-cpg binding protein 2 (mecp2) is an epigenetic factor associated with the neurodevelopmental disorders rett syndrome and mecp2 duplication syndrome. 2024-01-15 2024-01-18 mouse
Mohan Gomathi, Venkatesan Dhivya, Vijayakumar Padmavathi, Murugasamy Pradeepkumar, S Robert Wilson, Nachimuthu Senthil Kumar, Vellingiri Balachanda. Genetic Instability and Disease Progression of Indian Rett Syndrome Patients. Molecular neurobiology. 2023-12-26. PMID:38147229. rett syndrome (rtt) is the rare neurodevelopmental disorder caused by mutations in methyl cpg binding protein 2 (mecp2) gene with a prevalence of 1:10,000 worldwide. 2023-12-26 2023-12-28 Not clear
Arianna Pasqui, Vittoria Cicaloni, Laura Tinti, Anna Guiotto, Cristina Tinti, Alessia Mori, Marco Bruttini, Joussef Hayek, Alessandra Pecorelli, Laura Salvini, Giuseppe Valacch. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. Archives of biochemistry and biophysics. 2023-12-18. PMID:38110111. a proteomic approach to investigate the role of the mecp2 gene mutation in rett syndrome redox regulatory pathways. 2023-12-18 2023-12-21 Not clear
Arianna Pasqui, Vittoria Cicaloni, Laura Tinti, Anna Guiotto, Cristina Tinti, Alessia Mori, Marco Bruttini, Joussef Hayek, Alessandra Pecorelli, Laura Salvini, Giuseppe Valacch. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. Archives of biochemistry and biophysics. 2023-12-18. PMID:38110111. mutations in the x-linked methyl-cpg-binding 2 (mecp2) gene lead to rett syndrome (rtt; omim 312750), a devasting neurodevelopmental disorder. 2023-12-18 2023-12-21 Not clear
Fang-Xiao Xu, Xin-Tai Wang, Xin-Yu Cai, Jia-Yu Liu, Jing-Wen Guo, Fan Yang, Wei Chen, Martijn Schonewille, Chris De Zeeuw, Lin Zhou, Ying She. Purkinje-cell-specific MeCP2 deficiency leads to motor deficits and autistic-like behavior due to aberrations in PTP1B-TrkB-SK signaling. Cell reports. vol 42. issue 12. 2023-12-15. PMID:38100348. patients with rett syndrome suffer from a loss-of-function mutation of the mecp2 gene, which results in various symptoms including autistic traits and motor deficits. 2023-12-15 2023-12-18 Not clear
Yu Guo, Jiaqi Li, Wenyi Xie, Huaping Huang, Jin-Jing Li, Wanhui Lin, Ying-Qian L. Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2. Stem cell research. vol 74. 2023-12-15. PMID:38100910. generation of an integration-free induced pluripotent stem cell line, fjmuuhi002-a, from a rett syndrome patient with a heterozygous mutation p. r133c in mecp2. 2023-12-15 2023-12-18 human
Sabin A Nettles, Yoshiho Ikeuchi, Katheryn B Lefton, Ladan Abbasi, Alyssa Erickson, Chibueze Agwu, Thomas Papouin, Azad Bonni, Harrison W Gabe. MeCP2 represses the activity of topoisomerase IIβ in long neuronal genes. Cell reports. vol 42. issue 12. 2023-12-14. PMID:38096051. conversely, the rett syndrome protein, methyl-cpg-binding protein 2 (mecp2), can transcriptionally repress long genes. 2023-12-14 2023-12-17 mouse
Santosh R D'Mell. Rett and Rett-related disorders: Common mechanisms for shared symptoms? Experimental biology and medicine (Maywood, N.J.). 2023-12-07. PMID:38057990. rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl-cpg binding protein-2 (mecp2) gene that is characterized by epilepsy, intellectual disability, autistic features, speech deficits, and sleep and breathing abnormalities. 2023-12-07 2023-12-10 Not clear
Azam Asgarihafshejani, Vineeth Andisseryparambi Raveendran, Jessica C Pressey, Melanie A Woodi. LTP is Absent in the CA1 Region of the Hippocampus of Male and Female Rett Syndrome Mouse Models. Neuroscience. 2023-11-30. PMID:38036056. rett syndrome (rtt) is a debilitating neurodevelopmental disorder caused by mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene, resulting in severe deficits in learning and memory. 2023-11-30 2023-12-10 mouse
Destynie Medeiros, Karen Ayala-Baylon, Hailey Egido-Betancourt, Eric Miller, Christopher A Chapleau, Holly A Robinson, Mary L Phillips, Tao Yang, Frank Longo, Wei Li, Lucas Pozzo-Mille. A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice. bioRxiv : the preprint server for biology. 2023-11-21. PMID:37986936. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in methyl-cpg-binding protein-2 (mecp2), encoding a transcriptional regulator of many genes, including brain-derived neurotrophic factor (bdnf). 2023-11-21 2023-11-29 mouse
Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria, Uliana Musokhranvoa, Natalia Juliá-Palacios, Juliana Ribeiro-Constante, Xavier Altafaj, Mireia Olivella, Mar O'Callaghan, Alejandra Darling, Judith Armstrong, Rafael Artuch, Àngels García-Cazorla, Alfonso Oyarzába. Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission. Journal of inherited metabolic disease. 2023-11-07. PMID:37932875. analysis of the expression of lat1 transporter in brain samples from a mouse model of rett syndrome (mecp2) revealed a decrease in the transporter expression, that was already noticeable at pre-symptomatic stages. 2023-11-07 2023-11-08 mouse
Anne E Wes. Imaging the binding of MECP2 to DNA. Genes & development. 2023-11-01. PMID:37914350. mutations in the methyl-dna binding domain of mecp2 cause rett syndrome; however, distinct mutations are associated with different severity of the disease. 2023-11-01 2023-11-08 Not clear
Uliana Musokhranova, Cristina Grau, Cristina Vergara, Laura Rodríguez-Pascau, Clara Xiol, Alba A Castells, Soledad Alcántara, Pilar Rodríguez-Pombo, Pilar Pizcueta, Marc Martinell, Angels García-Cazorla, Alfonso Oyarzába. Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome. Journal of translational medicine. vol 21. issue 1. 2023-10-26. PMID:37884937. rett syndrome is a neuropediatric disease occurring due to mutations in mecp2 and characterized by a regression in the neuronal development following a normal postnatal growth, which results in the loss of acquired capabilities such as speech or purposeful usage of hands. 2023-10-26 2023-11-08 Not clear
Daria Kostanian, Anna Rebreikina, Victoria Voinova, Olga Sysoev. Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study. Molecular autism. vol 14. issue 1. 2023-10-26. PMID:37885019. rett syndrome (rs) is a rare neurodevelopmental disorder characterized by mutations in the mecp2 gene. 2023-10-26 2023-11-08 Not clear
Elizabeth Smith Khoury, Ruchit V Patel, Caroline O'Ferrall, Amanda Fowler, Nirnath Sah, Anjali Sharma, Siddharth Gupta, Susanna Scafidi, Joshua S Kurtz, Sarah J Olmstead, Sapna R Kudchadkar, Rangaramanujam M Kannan, Mary E Blue, Sujatha Kanna. Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome. Journal of neurochemistry. 2023-09-30. PMID:37777475. rett syndrome is an x-linked neurodevelopmental disorder caused by mutation of mecp2 gene and primarily affects females. 2023-09-30 2023-10-07 mouse
Wei Wang, Hui Li, Min Xiao, Mi Mu, Hui Xu, Bo Wan. Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis. Alternative therapies in health and medicine. 2023-09-29. PMID:37773669. rett syndrome (rtt) is now widely recognized as a profound neurological disorder that predominantly affects females and is closely associated with mutations in the methylated cpg binding protein 2 (mecp2) gene located on the x chromosome. 2023-09-29 2023-10-07 Not clear
Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, Alan K Percy, Jeffrey L Neul, Jane B Lane, Daniel G Glaze, Tim A Benke, Eric D Marsh, Kathleen J Motil, Judy O Barrish, Fran E Annese, Steven A Skinne. Parental age effects and Rett syndrome. American journal of medical genetics. Part A. 2023-09-28. PMID:37768187. rett syndrome (rtt) is a progressive neurodevelopmental disorder, and pathogenic methyl-cpg-binding protein 2 (mecp2) variants are identified in >95% of individuals with typical rtt. 2023-09-28 2023-10-07 human
Stephanie A Zlatic, Erica Werner, Veda Surapaneni, Chelsea E Lee, Avanti Gokhale, Kaela Singleton, Duc Duong, Amanda Crocker, Karen Gentile, Frank Middleton, Joseph M Dalloul, William L-Y Liu, Anupam Patgiri, Daniel Tarquinio, Randall Carpenter, Victor Faunde. Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants. bioRxiv : the preprint server for biology. 2023-09-15. PMID:37066332. we tested the systemic disease model focusing on rett syndrome, which is caused by mutations in mecp2. 2023-09-15 2023-10-07 mouse
Stephanie A Zlatic, Erica Werner, Veda Surapaneni, Chelsea E Lee, Avanti Gokhale, Kaela Singleton, Duc Duong, Amanda Crocker, Karen Gentile, Frank Middleton, Joseph Martin Dalloul, William Li-Yun Liu, Anupam Patgiri, Daniel Tarquinio, Randall Carpenter, Victor Faunde. Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants. Human molecular genetics. 2023-09-15. PMID:37712894. we tested the systemic disease model focusing on rett syndrome, which is caused by mutations in mecp2. 2023-09-15 2023-10-07 mouse
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstron. Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach. Human genomics. vol 17. issue 1. 2023-09-14. PMID:37710353. rett syndrome (rtt) is a neurodevelopmental disorder mainly caused by mutations in the methyl-cpg-binding protein 2 gene (mecp2). 2023-09-14 2023-10-07 Not clear