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
Neurosciences
Parker K. Stevenson, Devin M. Casenhiser, Billy Y. B. Lau, Keerthi Krishnan
Summary: The study reveals atypical behavioral patterns in a female mouse model for Rett syndrome during pup retrieval, such as abnormal pup approach and grooming interactions. Individual animals across different genotypes and strains show dynamic changes in goal-related movements during the study.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2021)
Review
Medicine, Research & Experimental
Santosh R. D'Mello
Summary: Rett syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome are neurodevelopmental disorders with shared neurological features and possibly common molecular mechanisms. This review investigates the role of deregulation of common molecules in neurons and astrocytes in key behavioral and neurological abnormalities in all three disorders.
EXPERIMENTAL BIOLOGY AND MEDICINE
(2023)
Article
Multidisciplinary Sciences
John R. Sinnamon, Michael E. Jacobson, John F. Yung, Jenna R. Fisk, Sophia Jeng, Shannon K. McWeeney, Lindsay K. Parmelee, Chi Ngai Chan, Siu-Pok Yee, Gail Mandel
Summary: This study provides evidence that a targeted RNA-editing approach can alleviate a hallmark symptom in a mouse model of Rett syndrome. Injection of a Mecp2-targeting virus effectively restores MeCP2 expression and function in the brainstem of mice, alleviating abnormal respiratory patterns and prolonging survival.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
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
Ipek Akol, Annalisa Izzo, Fabian Gather, Stefanie Strack, Stefanie Heidrich, Darren O. Hailin, Alejandro Villarreal, Christine Hacker, Tudor Rauleac, Chiara Bella, Andre Fischer, Thomas Manke, Tanja Vogel
Summary: Forkhead box G1 (FOXG1) plays important roles in neuronal differentiation and maintaining excitatory/inhibitory balance in the network. In this study, the authors investigated how FOXG1 impacts neuronal maturation at the chromatin level in the mouse hippocampus. They found that FOXG1 regulates transcription, binds to enhancer regions, and alters the epigenetic landscape. FOXG1 and NEUROD1 act cooperatively to control neuronal maturation, and the chromatin alterations affect synaptogenesis and axonogenesis. This study provides insights into the multimodality of FOXG1 functions and suggests epigenetic drugs as potential therapeutic options for neuronal dysfunction.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Clinical Neurology
Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice
Summary: Breathing abnormalities are common in Rett syndrome (RTT), especially obstructive apneas, with a significant impact on sleep apnea group showing higher AHI values and more breath holding episodes. Plasma redox active iron may represent a potential novel therapeutic target.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Giorgia Tascini, Giovanni Battista Dell'Isola, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
Summary: Rett Syndrome is a rare and severe X-linked developmental brain disorder that primarily affects females. Sleep disorders are common in individuals with Rett Syndrome and have an impact on their development and families, but evidence for their management is limited.
FRONTIERS IN NEUROLOGY
(2022)
Article
Neurosciences
Valentina Gigliucci, Jasper Teutsch, Marc Woodbury-Smith, Mirko Luoni, Marta Busnelli, Bice Chini, Abhishek Banerjee
Summary: The study found that Rett syndrome (RTT) is associated with deficits in KCC2 function and E/I balance. Treatment with recombinant human insulin-like growth factor-1 (rhIGF-1) and oxytocin (OXT) may restore KCC2 expression and normalize E/I balance. These findings provide new therapeutic strategies for RTT.
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
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.
Review
Biochemistry & Molecular Biology
Ainhoa Pascual-Alonso, Antonio F. Martinez-Monseny, Clara Xiol, Judith Armstrong
Summary: Mutations in the MECP2 gene can lead to Rett syndrome, primarily affecting females, while males can have a wide range of clinical presentations. In addition, there are unknown variants in MECP2 that complicate diagnosis. Unlike RTT, MECP2 duplication syndrome predominantly affects males and is usually inherited from the mother.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Changuk Chung, Wangyong Shin, Eunjoon Kim
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and repetitive symptoms. Studies in mouse models have shown early pathophysiological mechanisms that can be corrected to prevent phenotypic defects in adulthood. Additionally, gene restorations have demonstrated the rescue of ASD-related phenotypes even after the brain has fully matured.
BIOLOGICAL PSYCHIATRY
(2022)
Article
Immunology
Tingxuan Gu, Simin Zhao, Guoguo Jin, Mengqiu Song, Yafei Zhi, Ran Zhao, Fayang Ma, Yaqiu Zheng, Keke Wang, Hui Liu, Mingxia Xin, Wei Han, Xiang Li, Christopher D. Dong, Kangdong Liu, Zigang Dong
Summary: This study investigates the mechanism of cytokine storm syndrome (CSS) in COVID-19 and explores potential therapeutic options. TNF-α and IL-6 are suggested to play a role in the occurrence of CSS. The use of certain monoclonal antibodies and inhibitors shows promise in alleviating symptoms of CSS.
FRONTIERS IN IMMUNOLOGY
(2021)
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.
Review
Biochemistry & Molecular Biology
Gregory D. Funk, Vishaal Rajani, Tucaaue S. Alvares, Ann L. Revill, Yong Zhang, Nathan Y. Chu, Vivian Biancardi, Camila Linhares-Taxini, Alexis Katzell, Robert Reklow
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY
(2015)
Editorial Material
Biochemistry & Molecular Biology
Gregory D. Funk, Richard Kinkead
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY
(2015)
Article
Neurosciences
Plamena R. Angelova, Vitaliy Kasymov, Isabel Christie, Shahriar Sheikhbahaei, Egor Turovsky, Nephtali Marina, Alla Korsak, Jennifer Zwicker, Anja G. Teschemacher, Gareth L. Ackland, Gregory D. Funk, Sergey Kasparov, Andrey Y. Abramov, Alexander V. Gourine
JOURNAL OF NEUROSCIENCE
(2015)
Article
Biology
Ann L. Revill, Nikola C. Vann, Victoria T. Akins, Andrew Kottick, Paul A. Gray, Christopher A. Del Negro, Gregory D. Funk
Article
Physiology
V. Rajani, Y. Zhang, A. L. Revill, G. D. Funk
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY
(2016)
Review
Physiology
Alexander V. Gourine, Gregory D. Funk
JOURNAL OF APPLIED PHYSIOLOGY
(2017)
Editorial Material
Neurosciences
Gregory D. Funk
JOURNAL OF PHYSIOLOGY-LONDON
(2017)
Article
Physiology
Glauber S. F. da Silva, Joao P. J. Sabino, Vishaal Rajani, Tucaaue S. Alvares, Silvia Pagliardini, Luiz G. S. Branco, Gregory D. Funk
FRONTIERS IN PHYSIOLOGY
(2017)
Editorial Material
Neurosciences
Gregory D. Funk, Alexander V. Gourine
JOURNAL OF PHYSIOLOGY-LONDON
(2018)
Editorial Material
Neurosciences
Gregory D. Funk, Alexander V. Gourine
JOURNAL OF PHYSIOLOGY-LONDON
(2018)
Review
Neurosciences
Christopher A. Del Negro, Gregory D. Funk, Jack L. Feldman
NATURE REVIEWS NEUROSCIENCE
(2018)
Article
Physiology
Jennifer D. Zwicker, Yong Zhang, Jun Ren, Mark R. Hutchinson, Kenner C. Rice, Linda R. Watkins, John J. Greer, Gregory D. Funk
JOURNAL OF APPLIED PHYSIOLOGY
(2014)
Article
Neurosciences
Ann L. Revill, Nathan Y. Chu, Li Ma, Michelle J. LeBlancq, Clayton T. Dickson, Gregory D. Funk
JOURNAL OF PHYSIOLOGY-LONDON
(2019)
Editorial Material
Neurosciences
Robert T. R. Huckstepp, Gregory D. Funk
JOURNAL OF PHYSIOLOGY-LONDON
(2021)
Article
Neurosciences
Shahriar Sheikhbahaei, Nephtali Marina, Vishaal Rajani, Sergey Kasparov, Gregory D. Funk, Jeffrey C. Smith, Alexander V. Gourine
Summary: Current models of respiratory CO2 chemosensitivity primarily focus on RTN neurons, but there is evidence suggesting that preBotC and astrocytes play important roles in regulating CO2 respiratory responses. This study investigated their relative contributions by blocking astrocytic signaling, inhibiting RTN neurons, and carotid body denervation, and found that their combined effect can reduce the CO2-induced respiratory response by approximately 70%.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)