MECP2 disorders: from the clinic to mice and back

Cited by (197)

Items 101–197 of 197

1. Rett syndrome: think outside the (skull) box
   Emilie Borloz, Laurent Villard, Jean‐Christophe Roux · 2021 · Faculty Reviews
2. Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
   M. Zaghlula, D. Glaze, G. Enns, L. Potocki, A. Schwabe, B. Suter · 2018 · American Journal of Medical Genetics. Part A
3. Meta-analysis of classical swine fever prevalence in pigs in India: A 5-year study
   S. S. Patil, Kuralayanapalya Puttahonnappa Suresh, S. Saha, Awadhesh Prajapati, Divakar Hemadri, Parimal Roy · 2018 · Veterinary World
4. Proteomic analysis of the Rett syndrome experimental model mecp2Q63X mutant zebrafish.
   Alessio Cortelazzo, T. Pietri, C. De Felice, S. Leoncini, R. Guerranti, C. Signorini, A. Timperio, L. Zolla, L. Ciccoli, J. Hayek · 2017 · Journal of Proteomics
5. Structural Effects of Some Relevant Missense Mutations on the MECP2‐DNA Binding: A MD Study Analyzed by Rescore+, a Versatile Rescoring Tool of the VEGA ZZ Program
   A. Pedretti, C. Granito, Angelica Mazzolari, G. Vistoli · 2016 · Molecular Informatics
6. Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice
   Miaojing Xu, Pingping Song, Wei Huang, Rongni He, Yong He, Xiao Zhou, Yong Gu, Suyue Pan, Yafang Hu · 2017 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
7. Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome
   Joseph K. Tanas, Devante D. Kerr, Li Wang, Anika Rai, Ilse Wallaard, Ype Elgersma, Michael S. Sidorov · 2022 · Translational Psychiatry
8. Sleep problems in Rett syndrome animal models: A systematic review
   Xinyan Zhang, Jian‐Sheng Lin, Karen Spruyt · 2020 · Journal of Neuroscience Research
9. Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype
   Victor Faúndez, Meghan E. Wynne, Amanda J. Crocker, Daniel Charles Tarquinio · 2019 · Frontiers in Integrative Neuroscience
10. Regulation of transient receptor potential vanilloid 1 expression in trigeminal ganglion neurons via methyl-CpG binding protein 2 signaling contributes tongue heat sensitivity and inflammatory hyperalgesia in mice
    Azumi Suzuki, Masamichi Shinoda, K. Honda, T. Shirakawa, K. Iwata · 2016 · Molecular Pain
11. Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders
    Juanxian Cheng, Zhe Zhao, Liping Chen, Ying Li, Ruijing Du, Yan Wu, Qian Zhu, Ming Fan, Xiaotao Duan, Haitao Wu · 2021 · Neuroscience Bulletin
12. Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.
    Shi-Meng Chen, J. Xiong, Baiyu Chen, Ci-Liu Zhang, Xiao-Lu Deng, F. He, Li-Fen Yang, Chen Chen, Jing Peng, F. Yin · 2021 · Clinica chimica acta; international journal of clinical chemistry
13. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders
    Michela Fagiolini, Annarita Patrizi, Jocelyn J. LeBlanc, Lee‐Way Jin, Izumi Maezawa, Sarah E. Sinnett, Steven James Gray, Sophie Molholm, John J. Foxe, Michael V. Johnston et al. · 2020 · Neuroscience
14. An epigenomics approach to individual differences and its translation to neuropsychiatric conditions
    J. David Sweatt, Carol A. Tamminga · 2016 · Dialogues in Clinical Neuroscience
15. MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice
    María Abellán‐Álvaro, Oliver Stork, Carmen Agustín‐Pavón, Mónica Santos · 2021 · Journal of Neurodevelopmental Disorders
16. Microbial community changes in a female rat model of Rett syndrome
    A. Gallucci, Kelsey C. Patterson, Abigael R. Weit, William J. Van Der Pol, Laura G. Dubois, Alan K. Percy, Casey D. Morrow, Susan L. Campbell, Michelle Lynne Olsen · 2021 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
17. Fluoxetine rescues rotarod motor deficits in Mecp2 heterozygous mouse model of Rett syndrome via brain serotonin
    C. Villani, G. Sacchetti, M. Carli, R. Invernizzi · 2020 · bioRxiv
18. Stroke Causes DNA Methylation at Ncx1 Heart Promoter in the Brain Via DNMT1/MeCP2/REST Epigenetic Complex
    N. Guida, Angelo Serani, Luca Sanguigno, L. Mascolo, O. Cuomo, Salvatore Fioriniello, Domenico Marano, F. Della Ragione, S. Anzilotti, P. Brancaccio et al. · 2024 · Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease
19. Cranial irradiation inhibits hippocampal neurogenesis via DNMT1 and DNMT3A
    Shengjun Ji, Xin Ding, Jiang Ji, Haohao Wu, Rui Sun, Xiaoyang Li, Liyuan Zhang, Ye Tian · 2017 · Oncology Letters
20. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
    Sameer S. Bajikar, Yehezkel Sztainberg, Alexander J. Trostle, Harini P Tirumala, Ying‐Wooi Wan, Caroline L Harrop, Jesse D. Bengtsson, Claudia M.B. Carvalho, Davut Pehli̇van, Bernhard Suter et al. · 2024 · Human Molecular Genetics
21. The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment
    Hongji Sun, Mengxue Wu, Minxin Wang, Xiaomin Zhang, Jia Zhi Zhu · 2022 · Frontiers in Neuroscience
22. WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome
    Florencia Haase, B. Gloss, P. Tam, W. Gold · 2021 · International Journal of Molecular Sciences
23. Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex
    Jason Arsenault, Alexander W.M. Hooper, Shervin Gholizadeh, Tian Kong, Laura K. K. Pacey, Enea Koxhioni, Yosuke Niibori, James H. Eubanks, Lu‐Yang Wang, David R. Hampson · 2020 · Human Molecular Genetics
24. MeCP2 Binding Cooperativity Inhibits DNA Modification-Specific Recognition
    Sergei N. Khrapunov, Yisong Tao, Huiyong Cheng, Camille Padlan, Richard Harris, Aristea S. Galanopoulou, John M. Greally, Mark E. Girvin, Michael D. Brenowitz · 2016 · Biochemistry
25. Identification of Correlative Shifts in Indices of Brain Cholesterol Metabolism in the C57BL6/<i>Mecp2</i>^{<i>tm1.1Bird</i>} Mouse, a Model for Rett Syndrome
    Lütjohann, Dieter, Lopez, Adam M., Chuang, Jen‐Chieh, Kerksiek, Anja, Turley, Stephen D. · 2018 · Lipids
26. Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates
    Autumn S. Ivy, SM Standridge · 2021 · Seminars in Pediatric Neurology
27. Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
    Alfonso Oyarzábal, Clara Xiol, Alba Aina Castells, C. J. Alejos Grau, Mar O’Callaghan, Guerau Fernández, Soledad Alcántara, Mercè Pineda, Judith Armstrong, Xavier Altafaj et al. · 2020 · International Journal of Molecular Sciences
28. Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation.
    Yuan-Yuan Wang, Chen Chen, Zi-Yu Deng, Er-Bao Bian, Cheng Huang, T. Lei, Xiong-Wen Lv, Li-Ping Liu, Jun Li · 2017 · International Journal of Biological Macromolecules
29. Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
    J. Neul, T. Benke, Eric D. Marsh, B. Suter, C. Fu, R. Ryther, S. Skinner, D. Lieberman, T. Feyma, A. Beisang et al. · 2024 · Genes
30. Druggable Sphingolipid Pathways: Experimental Models and Clinical Opportunities
    Victoria A. Blaho · 2020 · Advances in experimental medicine and biology
31. Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments
    Steven U. Walkley, Leonard Abbeduto, Mark L. Batshaw, Anita Bhattacharyya, Susan Y. Bookheimer, Bradley T. Christian, John Nicholas Constantino, Jean de Vellis, Daniel Doherty, David Lee Nelson et al. · 2019 · Annals of Neurology
32. Lack of MeCP2 leads to region-specific increase of doublecortin in the olfactory system
    Elena Martínez-Rodríguez, Ana Martín‐Sánchez, Simona Coviello, Cristina Foiani, Emre Kul, Oliver Stork, Fernando Martínez‐Garciá, Juan Nácher, Enrique Lanuza, Mónica Santos et al. · 2019 · Brain Structure and Function
33. A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2 deficient mouse brain
    Sara Carli, Linda Chaabane, Giuseppina De Rocco, Elena Albizzati, Irene Sormonta, Stefano Calligaro, Pietro Bonizzi, Angelisa Frasca, Nicoletta Landsberger · 2023 · Neurobiology of Disease
34. The Cell Adhesion Molecule L1 Interacts with Methyl CpG Binding Protein 2 via Its Intracellular Domain
    G. Loers, R. Kleene, Maria Girbes Minguez, M. Schachner · 2022 · International Journal of Molecular Sciences
35. Exploration of group II metabotropic glutamate receptor modulation in mouse models of Rett syndrome and MECP2 Duplication syndrome
    Sheryl Anne D. Vermudez, Aditi B. Buch, Kelly Weiss, Rocco G. Gogliotti, Colleen Marie Niswender · 2022 · Neuropharmacology
36. Unraveling the Endocannabinoid System: Exploring Its Therapeutic Potential in Autism Spectrum Disorder
    Ankit Jana, Arnab Nath, Palash Sen, Swikriti Kundu, Badrah Saeed Ali Alghamdi, Turki S. Abujamel, Muhammad Saboor, Woon‐Khiong Chan, Athanasios T. Alexiou, Marios Papadakis et al. · 2024 · NeuroMolecular Medicine
37. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association
    Marcel Proske, R. Janowski, Sabrina Bacher, Hyun-Seo Kang, T. Monecke, Tony Köhler, S. Hutten, J. Tretter, Anna Crois, Lena Molitor et al. · 2024 · bioRxiv
38. From synapses to circuits: What mouse models have taught us about how autism spectrum disorder impacts hippocampal function
    Leandra Severino, Jinhyun Kim, Min‐Ho Nam, Thomas John McHugh · 2024 · Neuroscience & Biobehavioral Reviews
39. Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment
    Laura Baroncelli, Auel Stefanie, Lena Rinne, Ann-Kathrin Schuster, Victoria Brand, Belinda Kempkes, Katharina Dietrich, Michael Müller · 2022 · Antioxidants
40. Behavioral and transcriptomic analyses of mecp2 function in zebrafish
    Nicholas J. Santistevan, C. Ford, Cole S. Gilsdorf, Yevgenya Grinblat · 2023 · bioRxiv
41. The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
    Rami A. Ballout, A. El-Hattab · 2021 · Genes
42. Pain in Rett syndrome: peculiarities in pain processing and expression, liability to pain causing disorders and diseases, and specific aspects of pain assessment
    Peter Martin · 2017 · Advances in Autism
43. Lack of β2-AR Increases Anxiety-Like Behaviors and Rewarding Properties of Cocaine
    Huiwen Zhu, Zhiyuan Liu, Yiming Zhou, Xu-Ming Yin, Bo Xu, Lan Ma, Xing Liu · 2017 · Frontiers in Behavioral Neuroscience
44. Unusual double mutation in MECP2and CDKL5 genes in Rett-like Syndrome: correlation with phenotype and genes expression.
    Marwa Ben Jdila, C. Triki, Rania Ghorbel, Wafa Bouchalla, S. Ben Ncir, F. Kamoun, F. Fakhfakh · 2020 · Clinica chimica acta; international journal of clinical chemistry
45. Gene Editing to the Rescue: Reversal of Social Deficits Associated with MECP2 Duplication
    Yu, Zi-Xian, Wang, Dan-Yang, Xu, Xiao-Hong · 2020 · Neuroscience Bulletin
46. Synaptic disturbance in neurodevelopmental disorders: Perspectives from fragile X and Rett syndromes
    Ruixiang Li, Mai Anzai, A. Shibata, Aya Ito · 2025 · Brain and Development
47. Emerging chromatin structural roles of the methyl-CpG binding protein MeCP2.
    Yui Imaizumi, R. Feil · 2021 · Epigenomics
48. VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
    I. Iourov, S. Vorsanova, Y. Yurov, T. Bertrand · 2018 · Molecular Cytogenetics
49. Hormonal disorders in autism spectrum disorders
    Solmaz Jalilzadeh Khalet Abad, Galavizh Kalashipour Chir, P. Heydari, Ahmad Fazilat, Fatemeh Mortazavi Moghadam, Mohammad Valilo · 2025 · Hormone Molecular Biology and Clinical Investigation
50. Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome
    Junfang Wu, Qingyu Hu, Xiaoping Rao, Hongyang Zhao, Huiru Tang, Yulan Wang · 2023 · Brain Research Bulletin
51. Adenosinergic System and BDNF Signaling Changes as a Cross-Sectional Feature of RTT: Characterization of Mecp2 Heterozygous Mouse Females
    Catarina Miranda-Lourenço, J. Rosa, N. Rei, Rita F. Belo, A. Lopes, D. Silva, Cátia Vieira, T. Magalhães-Cardoso, Ricardo Viais, P. Correia-de-Sá et al. · 2023 · International Journal of Molecular Sciences
52. Синдром Ретта в России и за рубежом: научный исторический обзор
    Светлана Григорьевна Ворсанова, Ю. Б. Юров, В. Ю. Войнова, И. Ю. Юров · 2020
53. Functional and molecular early enteric biomarkers for Parkinson’s disease in mice and men
    Manuela Gries, Anne Christmann, Steven Schulte, Maximilian Weyland, Stephanie Rommel, Monika Martin, Marko K. Baller, Ralph Röth, Stefanie Schmitteckert, Marcus Michael Unger et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
54. Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
    E. Candelo, Diana Ramírez-Montaño, H. Pachajoa · 2019 · Iranian Journal of Medical Sciences
55. MeCP2… Nature’s Wonder Protein or Medicine’s Most Feared One?
    Rafael Claveria‐Gimeno, Olga Abián, Adrián Velázquez‐Campoy, Juan Ausió · 2016 · Current Genetic Medicine Reports
56. Transcriptional Consequences of MeCP2 Knockdown and Overexpression in Mouse Primary Cortical Neurons
    Mostafa Rezapour, Joshua Bowser, Christine A. Richardson, Metin N. Gürcan · 2025 · International Journal of Molecular Sciences
57. Points to consider when initiating clinical investigations in autistic paediatric populations-A White Paper.
    Lindsay M. Ham, H. Staunton, J. M. Schulz, J. Tillmann, Dietmar Volz, L. Murtagh, Christopher Chatham, Eoin C. O’Connor, Stormy Chamberlain, Philipp Schoenenberger et al. · 2024 · European Neuropsychopharmacology
58. MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.
    Marine Brousseau, J. Nectoux, B. Saintpierre, Nicolas Lebrun, N. Cagnard, B. Izac, E. Olivier, F. Letourneur, T. Bienvenu · 2020 · Biochimica et Biophysica Acta - Molecular Basis of Disease
59. Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
    A. Deshwar, L. Dupuis, C. Bergmann, James D. Stavropoulos, R. Mendoza-Londono · 2018 · American Journal of Medical Genetics. Part A
60. DNA methylation, nucleic acid structure, and rett mutations tune MeCP2 binding affinity and cooperativity
    Manana Melikishvili, Matthew Rea, Colt D. Capan, Hyoungjoo Lee, Darrell P. Chandler, Yvonne N. Fondufe‐Mittendorf · 2026 · Journal of Biological Chemistry
61. MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes
    Mirko Luoni, Michal Kubacki, Serena Gea Giannelli, Francesca Morosi, Claudia Di Berardino, Angelo Iannielli, Alessandro Sessa, Gaia Colasante, Emanuele Di Patrizio Soldateschi, Chiara Lanzuolo et al. · 2026 · Nature Communications
62. Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome
    Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Mannironi · 2025 · Scientific Reports
63. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.
    A. Moirangthem, Moni Tuteja Bhatia, Priyanka Srivastava, K. Mandal, Archana Rai, S. Phadke · 2017 · Clinical Dysmorphology
64. mTOR signaling in proteostasis and its relevance to autism spectrum disorders
    Judit Faus-Garriga, 1 Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003, Barcelona, Spain, Isabel Novoa, Andrés Ozaita · 2017 · AIMS Biophysics
65. Epigenetic and Transcriptomic Pathways Underlying Animal Models of Cognitive and Psychiatric Disorders: A Scoping Review
    Jaishriram Rathored, Ajay Pal, Deepika Sai Painkra · 2026 · Current Issues in Molecular Biology
66. Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome
    Frederike Schäfer, Giuseppina De Rocco, Moritz Carl Völker-Albert, Ignasi Forné, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri · 2026 · FEBS Journal
67. Sleep Disorders in Children with Rett Syndrome
    C. Harner, T. Gaffey, Shannon S. Sullivan, Manisha Witmans, L. Delrosso, Mary Anne Tablizo · 2025 · Children
68. Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model
    Sofía Espinoza, Bredford Kerr, Camila Navia, Rodrigo Flavio Torres, Nuria Llontop, Verónica Valladares, Cristina Silva, Ariel Vivero, Exequiel Novoa-Padilla, Jessica Mella et al. · 2025 · Biomolecules
69. Loss of MeCP2 leads to sleep deficits that are time-of-day dependent and worsen with sleep deprivation
    Abrar Al Maghribi, C. A. Ottaway, Michael J. Rempe, Elizabeth Medina, Kaitlyn Ford, Kristan G. Singletary, Lucı́a Peixoto · 2025 · Neurobiology of Sleep and Circadian Rhythms
70. Boosting Serotonin Synthesis Is Not Sufficient to Improve Motor Coordination of Mecp2 Heterozygous Mouse Model of Rett Syndrome
    C. Villani, G. Sacchetti, Roberto W. Invernizzi · 2024 · Biomolecules
71. Description of Clinician-Diagnosed Regression at Time of Autism Spectrum Disorder Diagnosis in Toddlers
    Christopher Zaro, Holly K. Harris, G. Sideridis, W. Barbaresi, E. Harstad · 2022 · Journal of Developmental and Behavioral Pediatrics
72. Loss of Dnmt3a dependent methylation in inhibitory neurons impairs neural function through a mechanism that impacts Rett syndrome
    Laura A. Lavery, Kerstin Ure, Y. Wan, C. Luo, Alexander J. Trostle, Wei Wang, Joanna Lopez, J. Lucero, Mark A. Durham, R. Castanon et al. · 2019 · bioRxiv
73. Autism: Animal Models
    Melissa D. Bauman, Jacqueline N. Crawley, Robert F. Berman · 2010 · Wiley eBooks
74. MECP2 duplication and mutations impair NSCs differentiation via miR-197 regulated ADAM10
    Yu-Meng Wang, Yu-Fang Zheng, Si-Yu Yang, Zhang-Min Yang, Lin-Na Zhang, Yan-Qin He, Xiao-Hong Gong, Dong Liu, R. Finnell, Zi-Long Qiu et al. · 2018 · bioRxiv
75. Silent angels the genetic and clinical aspects of Rett syndrome
    Ewelina Dziwota, Urszula Fałkowska, Katarzyna Adamczyk, Dorota Adamczyk, Alena Stefańska, Justyna Pawęzka, Marcin Olajossy · 2016 · Current Problems of Psychiatry
76. DNA Methylation in Heart Failure
    Justus Stenzig, Roger Foo · 2016 · Cardiac and vascular biology
77. Neurobiology of Autism Spectrum Disorders
    Gabriela Joca Martins · 2017 · Springer eBooks
78. Repetitive transcranial magnetic stimulation targeting motor cortical region induces cell-type-specific transcriptional reprogramming and behavioral recovery in non-human primate model of Rett syndrome
    Wei Li, Wen-Jie Sun, Jing Su, Fu-Ting Yang, Xiang-Hui Qiu, Yan Zhuo, Ze-Yuan Yang, Zheng-Bo Wang, Zhi-Gang Chen, Tian-Zhuang Huang et al. · 2026 · bioRxiv
79. Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2
    Ana Martín‐Sánchez, Daniela Jiménez-Díaz, Rafael Esteve-Pérez, Alexandru Vasile‐Tudorache, Jordan E. Read, Sasha Rose Howard, Carmen Agustín‐Pavón · 2026 · Journal of Neuroendocrinology
80. Single-nucleus profiling reveals a core disease signature and cell type–specific vulnerabilities in early Rett syndrome
    Yan Li, Ashley G. Anderson, Guantong Qi, Sih‐Rong Wu, Jean‐Pierre Revelli, Hu Chen, Zhandong Liu, Huda Yahya Zoghbi · 2026 · Science Advances
81. Inhibition of protein tyrosine phosphatase PTP1B function ameliorates pathophysiological deficits in Rett Syndrome
    Christopher A. Bonham, Christy Felice, Lisa N. Christensen, N. Tonks · 2026 · bioRxiv
82. Loss of enteric BDNF–TrkB signaling and VIPergic dysfunction underlie gastrointestinal dysmotility in a Mecp2-null mouse model of Rett syndrome
    Srinivas N. Puttapaka, Israel A. Admasu, Ainsleigh Scott, G. Sonmez, P. Seika, Mahalakshmi Rajkumar, Xavier Valencia, Alan Consorti, Su-Min Hong, Jared Slosberg et al. · 2026 · bioRxiv
83. The novel role of GADD45A in the etiology of autism: modulating neuronal excitability via TET1/R-loop dependent regulation of KCNQ5
    Juncen Guo, Bin Zhu, Ying Zhang, Qing Li, Jing Jing Zhang, Qing He, Juan Du, Yuelin Song, Tongtong Li, Heng Yin et al. · 2026 · Molecular Psychiatry
84. The Endo-GeneScreen platform identifies drug-like probes that regulate endogenous protein levels within physiological contexts
    Preston N. Samowitz, László Radnai, Thomas Vaissière, Sheldon D. Michaelson, Camilo J. Rojas, Ryan Mitchell, Murat Kılınç, Austin W. Edwards, Justin Shumate, Richard Hawkins et al. · 2025 · Nature Communications
85. Upregulated SEMA3C in astrocytes contributes to Rett Syndrome phenotypes
    Krissy A. Lyon, Adrien Paumier, Ananya Kandikonda, Andrea Melendez, Nicola J. Allen · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
86. Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes
    Joseph S. Anderson, Jill L. Silverman, Alyse L. Lodigiani, Camilla M. Barbaduomo, Julie R. Beegle · 2025 · Frontiers in Drug Discovery
87. Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms
    Ladan Kalani, Bo-Hyun Kim, Alberto Ruiz de Chavez, Anastasia Roemer, A. Mikhailov, Jonathan K. Merritt, Katrina V. Good, Robert Chow, Kerry Delaney, Michael J Hendzel et al. · 2024 · Human Molecular Genetics
88. Deleting Mecp2 from the entire cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice
    Nathan P. Achilly, Ling-Jie He, Olivia A. Kim, Shogo Ohmae, Gregory J. Wojaczynski, Tao Lin, R. Sillitoe, Javier F. Medina, H. Zoghbi · 2020 · bioRxiv
89. Loss of O-GlcNAcylation on MeCP2 Thr 203 Leads to Neurodevelopmental Disorders
    Juanxian Cheng, Zhe Zhao, Li-Ping Chen, Ruijing Du, Yan Wu, Qian Zhu, M. Fan, Xiaotao Duan, Haitao Wu · 2020 · bioRxiv
90. MECP2 Gene
    Kartik Pattabiraman · 2020 · Encyclopedia of Autism Spectrum Disorders
91. Shared microbial community changes in female rats and humans with Rett syndrome
    Allison Gallucci, Kelsey C. Patterson, Abigael R. Weit, William Van Der Pol, Laura G. Dubois, Alan K. Percy, Casey D. Morrow, Susan L. Campbell, M.L. Olsen · 2019
92. Control of the cerebral cortex plasticity through the non-cell autonomous function of OTX2 homeoprotein
    Jessica Apulei · 2019
93. Perspectivas neurobiológicas para explicar el autismo: una revisión sistemática de literatura
    Martín Sosa, Nicolás Alessandroni, María Cristina Piro · 2017 · Revista de Psicología
94. Understanding the Roles of DNA Methylation and MeCP2 in Neuronal Enhancer Control
    Adam W. Clemens · 2021 · Open Scholarship Institutional Repository (Washington University in St. Louis)
95. Verhaltens- und Neurogenetik
    Jochen Graw · 2015 · Springer eBooks
96. Restructuring of the Axon Initial Segment in Mouse Models of Neurodevelopmental Disorders
    R. Rodriguez · 2019
97. The rising importance of the periphery for regulating centrally mediated socialbehaviors.
    Kathryn J. Argue · 2016