Article
Medicine, Research & Experimental
Linda Scaramuzza, Giuseppina De Rocco, Genni Desiato, Clementina Cobolli Gigli, Martina Chiacchiaretta, Filippo Mirabella, Davide Pozzi, Marco De Simone, Paola Conforti, Massimiliano Pagani, Fabio Benfenati, Fabrizia Cesca, Francesco Bedogni, Nicoletta Landsberger
Summary: MECP2 mutations cause Rett syndrome, affecting females and altering early brain development. Increasing neuronal activity may delay specific RTT phenotypes.
EMBO MOLECULAR MEDICINE
(2021)
Article
Neurosciences
Nicolas Lebrun, Chloe Delepine, Mohamed Selloum, Hamid Meziane, Juliette Nectoux, Yann Herault, Thierry Bienvenu
Summary: Rett syndrome is a rare neurodevelopmental disorder, with more than 95% of cases linked to variants in the MECP2 gene. By modulating microtubule dynamics, the selective HDAC6 inhibitor tubastatin A can reverse exploratory behavior deficits associated with Rett syndrome.
Article
Biochemistry & Molecular Biology
Catarina Miranda-Lourenco, Jessica Rosa, Nadia Rei, Rita F. Belo, Ana Luisa Lopes, Diogo Silva, Catia Vieira, Teresa Magalhaes-Cardoso, Ricardo Viais, Paulo Correia-de-Sa, Ana M. Sebastiao, Maria J. Diogenes
Summary: This study reveals significant changes in the BDNF and adenosine signaling pathways in a milder phenotype model of Rett Syndrome, suggesting that enhancing adenosinergic activity may be an effective therapeutic strategy for RTT patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Nathan P. Achilly, Wei Wang, Huda Y. Zoghbi
Summary: Research using a mouse model of Rett syndrome shows that intensive training before symptom onset can significantly improve specific motor and memory tasks, delaying the onset of symptoms. The study indicates that task-specific neurons activated during training develop more dendritic arbors and have better neurophysiological responses, enhancing their functionality and delaying symptom onset.
Article
Biochemistry & Molecular Biology
Florencia Haase, Rachna Singh, Brian Gloss, Patrick Tam, Wendy Gold
Summary: Rett syndrome is a rare disorder that causes intellectual disabilities in females, primarily due to mutations in the MeCP2 gene. The molecular pathways from genotype to phenotype are not yet fully understood. Treatment options for Rett syndrome are limited, and there is a lack of common disease drivers, biomarkers, or therapeutic targets. In this study, a meta-analysis of transcriptomic studies identified a module of genes common to multiple datasets, with ten hub genes driving their expression. These genes have the potential to be therapeutic targets for Rett syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Ladan Kalani, Bo-Hyun Kim, John B. Vincent, Juan Ausio
Summary: MeCP2 is a protein that binds to methylated genome regions and plays a critical transcriptional regulatory role in the brain. Mutations in MeCP2 are responsible for 95% of Rett syndrome cases. The protein undergoes various post-translational modifications, including ubiquitination and sumoylation, which play important roles in protein degradation. However, the molecular details of MeCP2 signaling and the functional roles of its monomeric ubiquitination and sumoylation are still not well understood.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Alba-Aina Castells, Rafel Balada, Alba Tristan-Noguero, Mar O'Callaghan, Elisenda Cortes-Saladelafont, Ainhoa Pascual-Alonso, Angels Garcia-Cazorla, Judith Armstrong, Soledad Alcantara
Summary: This study aims to explore potential biomarkers for Rett syndrome and MECP2 duplication syndrome, and establish a foundation for early diagnosis and monitoring of disease progression. The results suggest the possibility of identifying specific miRNA biomarker panels to aid in stratification of patient groups.
Article
Biochemistry & Molecular Biology
Chiara Urbinati, Livia Cosentino, Elena Angela Pia Germinario, Daniela Valenti, Daniele Vigli, Laura Ricceri, Giovanni Laviola, Carla Fiorentini, Rosa Anna Vacca, Alessia Fabbri, Bianca De Filippis
Summary: Rett syndrome is a rare neurological disorder caused by mutations in the X-linked MECP2 gene and currently has no cure. Research has shown that CNF1 can partially restore cognitive defects in a Rett syndrome mouse model, but its efficacy varies depending on the specific MECP2 mutation carried by the mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Sheryl Anne D. Vermudez, Aditi Buch, Kelly Weiss, Rocco M. Gogliotti, Colleen M. Niswender
Summary: Rett syndrome and MECP2 Duplication syndrome have opposite molecular origins, but share some clinical and preclinical phenotypes. Modulating mGlu2 and mGlu3 receptors may be a potential treatment option for both disorders.
Article
Biochemistry & Molecular Biology
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, Mar O'Callaghan, Judith Armstrong, Manel Esteller, Sonia Guil
Summary: Rett syndrome is a severe neurodevelopmental disease caused by mutations in the MeCP2 gene, which affects synaptic plasticity and neuronal activity. The MeCP2 protein is critical for the proper expression of immediate-early genes (IEGs) involved in activity-dependent responses, and abnormal expression of IEGs is found in MeCP2-deficient neurons and in RTT patients. These findings highlight the importance of IEGs in synaptic development and the regulatory role of MeCP2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Giuseppe Pepe, Salvatore Fioriniello, Federico Marracino, Luca Capocci, Vittorio Maglione, Maurizio D'Esposito, Alba Di Pardo, Floriana Della Ragione
Summary: Rett syndrome is a severe neurodevelopmental disorder caused by pathogenetic variants in the MECP2 gene. This study found that Rett syndrome patients have impaired brain vascular homeostasis and blood-brain barrier breakdown, which may contribute to the cognitive impairment. The study provides evidence of impaired blood-brain barrier integrity in Rett syndrome and offers new perspectives for novel therapeutic strategies.
Article
Neurosciences
Valerie Matagne, Emilie Borloz, Yann Ehinger, Lydia Saidi, Laurent Villard, Jean-Christophe Roux
Summary: Rett syndrome is a severe neurodevelopmental disorder caused by mutations in the MECP2 gene, and gene therapy has shown some efficacy in improving symptoms but further research is needed. Severe side effects were observed when using high doses of the vector, including liver damage and apoptosis.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Hannes Steinkellner, Prakasha Kempaiah, Alexander Beribisky, Sandra Pferschy, Julia Etzler, Anna Huber, Victoria Sarne, Winfried Neuhaus, Mario Kuttke, Jan Bauer, Jayamuruga P. Arunachalam, John Christodoulou, Ralf Dressel, Alexander Mildner, Marco Prinz, Franco Laccone
Summary: This study demonstrates the therapeutic potential of recombinant TAT-MeCP2 in treating Rett syndrome. The findings show that TAT-MeCP2 can reverse the pathological changes of the disease and extend the lifespan of mice. This research lays the foundation for the development of a new therapy for Rett syndrome.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Neurosciences
Jiaojian Wang, Zhengbo Wang, Hongjiang Zhang, Shufei Feng, Yi Lu, Shuang Wang, Hong Wang, Yi Eve Sun, Yongchang Chen
Summary: The study revealed that the brain white matter microstructure of Rett syndrome monkey models was initially disrupted but recovered later on, while the white matter network topology showed persistent abnormal dynamics, which were closely related to the behavioral abnormalities associated with RTT.
Article
Biochemistry & Molecular Biology
Yann Ehinger, Valerie Matagne, Valerie Cunin, Emilie Borloz, Michel Seve, Sandrine Bourgoin-Voillard, Ana Borges-Correia, Laurent Villard, Jean-Christophe Roux
Summary: Mutations in the X-linked MECP2 gene cause Rett syndrome, and a study identified the involvement of astroglial secreted proteins in the neuronal RTT phenotype in vitro. Lcn2 and Lgals3 were found to significantly increase dendritic arborization of neurons from Mecp2 KO mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Yan-Chu Chen, Yun-Li Ma, Cheng-Hsiung Lin, Sin-Jhong Cheng, Wei-Lun Hsu, Eminy H. -Y. Lee
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2017)
Article
Pharmacology & Pharmacy
Shau-Yu Liu, Yun-Li Ma, Wei-Lun Hsu, Hsin-Ying Chiou, Eminy H. Y. Lee
BRITISH JOURNAL OF PHARMACOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Chih-Chieh Tao, Kuang-Min Cheng, Yun-Li Ma, Wei-Lun Hsu, Yan-Chu Chen, Jong-Ling Fuh, Wei-Ju Lee, Chih-Chang Chao, Eminy H. Y. Lee
CELL DEATH AND DIFFERENTIATION
(2020)
Article
Multidisciplinary Sciences
Wei-Lun Hsu, Yun-Li Ma, Yen-Chen Liu, Derek J. C. Tai, Eminy H. Y. Lee
SCIENTIFIC REPORTS
(2020)
Article
Biotechnology & Applied Microbiology
Yen-Chen Liu, Wei-Lun Hsu, Yun-Li Ma, Eminy H. Y. Lee
Summary: The study revealed that AICD SUMOylation enhances its association with binding proteins, facilitates nuclear translocation, and promotes transcriptional activation leading to decreased Aβ levels, oligomerization, and plaque deposits in Alzheimer's disease.
Article
Biology
Wei L. Hsu, Yun L. Ma, Yen C. Liu, Eminy H. Y. Lee
Article
Biochemistry & Molecular Biology
Chih Chieh Tao, Wei Lun Hsu, Yun Li Ma, Sin Jhong Cheng, Eminy H. Y. Lee
CELL DEATH AND DIFFERENTIATION
(2017)