Results 21 to 30 of about 3,757,153 (283)
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Neuropsychiatric Disease and Treatment, 2022 Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein.
B. Collins, J. Neul
semanticscholar +1 more source
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
Frontiers in Genetics, 2021 Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development.
Katrina V. Good, J. Vincent, J. Ausió
semanticscholar +1 more source
State‐of‐the‐art therapies for Rett syndrome
Developmental Medicine & Child Neurology, 2022 Rett syndrome (RTT) is an X‐linked neurogenetic disorder caused by mutations of the MECP2 (methyl‐CpG‐binding protein 2) gene. Over two decades of work established MeCP2 as a protein with pivotal roles in the regulation of the epigenome, neuronal ...
N. Panayotis +3 more
semanticscholar +1 more source
Presymptomatic training mitigates functional deficits in Rett syndrome mice
Nature, 2021 Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline1–3.
Nathan P. Achilly, Wen Wang, H. Zoghbi
semanticscholar +1 more source
Multisite Study of Evoked Potentials in Rett Syndrome
Annals of Neurology, 2021 The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease‐modifying therapeutics are currently under development, there is a pressing need for ...
Joni N. Saby +13 more
semanticscholar +1 more source
The Molecular Functions of MeCP2 in Rett Syndrome Pathology
Frontiers in Genetics, 2021 MeCP2 protein, encoded by the MECP2 gene, binds to DNA and affects transcription. Outside of this activity the true range of MeCP2 function is still not entirely clear.
O. Sharifi, D. Yasui
semanticscholar +1 more source
PLoS ONE, 2023 Rett syndrome, a rare genetic neurodevelopmental disorder in humans, does not have an effective cure. However, multiple therapies and medications exist to treat symptoms and improve patients’ quality of life.
Pradyumna Byappanahalli Suresha +4 more
doaj +3 more sources
Genes, 2021 Introduction: Progress in the clinical application of next-generation-sequencing-based techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of the Rett syndrome spectrum (RSS).
C. Spagnoli, C. Fusco, F. Pisani
semanticscholar +1 more source
Psychiatry and Clinical Neurosciences, 2021 This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT).
Jatinder Singh +3 more
semanticscholar +1 more source
Analysis of partner proteins of MeCP2 and their relevance to Rett syndrome [PDF]
, 2012 Methyl-CpG binding protein 2 (MeCP2) was discovered as a protein binding to methylated DNA more than 20 years ago. It is very abundant in the brain and was shown to be able to repress transcription.
Ekiert, Robert
core +3 more sources