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Nature Reviews Disease PrimersRett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
Wendy A Gold
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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Nature Medicine, 2023 Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth factor 1 protein, and has demonstrated clinical benefit in phase 2 studies ...
Jeffrey L. Neul +2 more
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Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
Frontiers in Neurology, 2022 Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible ...
Giorgia Tascini +6 more
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Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome [PDF]
Frontiers in NeurologyBackgroundIn children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities.MethodsThis was a prospective longitudinal study conducted at the Danish ...
Anne-Marie Bisgaard +6 more
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Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome [PDF]
Human Vaccines & ImmunotherapeuticsRett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with
Ludovica Soldateschi +14 more
doaj +2 more sources
Frontiers in Integrative Neuroscience, 2020 Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new
Joni N. Saby +6 more
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Journal of Neurodevelopmental Disorders, 2019 Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the ...
Katherine J. Roche +5 more
doaj +2 more sources
Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome
Nature, 2021 Huda Y Zoghbi
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Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
Nature Neuroscience, 2018 In females with X-linked genetic disorders, wild-type and mutant cells coexist within brain tissue because of X-chromosome inactivation, posing challenges for interpreting the effects of X-linked mutant alleles on gene expression.
William Renthal +2 more
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Sphingolipid Metabolism Perturbations in Rett Syndrome
Metabolites, 2019 Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2.
Gerarda Cappuccio +6 more
doaj +2 more sources