Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1601-1609, November 2026.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Global analysis of the methyl-CpG binding protein MeCP2 [PDF]
, 2010 MeCP2 was initially identified as an abundant protein in the brain, with an affinity for methylated DNA in vitro. Interestingly, both deficiency and excess of the protein leads to severe neurological problems, such as Rett syndrome, which is the result
Skene, Peter J.
core +1 more source
Rett syndrome in the era of early diagnosis and therapy: From genotype to phenotype
Developmental Medicine &Child Neurology, EarlyView.
Christian P. Schaaf
wiley +1 more source
Identifying Protein Interaction Networks for MeCP2 using Proximity Labelling [PDF]
, 2020 Mutations in methyl-CpG binding protein 2 (MeCP2) have been attributed as the cause of Rett syndrome (RTT). RTT is an X-linked neurological disorder affecting approximately 1/10000 females.
Peixinho, Jessica
core
MeCP2 dysregulation inhibits mitophagy and impairs neural development in cortical organoids
Journal of Advanced ResearchIntroduction: Methylated CpG-binding protein 2 (MeCP2) plays a critical role in the normal development and function of the nervous system. Mutations in MeCP2 have been linked to neurodevelopmental disorders, potentially because of mitochondrial ...
Jing Zhou +12 more
doaj +1 more source
miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models
iScienceDuplication of the methyl-CpG-binding protein 2 (MECP2) gene causes MECP2 duplication syndrome (MDS), a severe neurodevelopmental disorder with an unclear pathology. We previously showed that MeCP2 promotes the processing of specific microRNAs (miRNAs), including miR-199a, to regulate neuronal functions.
Yuichi Akaba +20 more
openaire +2 more sources
MeCP2 becomes detectable in heterochromatic chromocenters at late differentiation stages.
, 2012 A. Mecp2wt and Mecp2−/y tEG cells were differentiated, fixed, and immunostained with antibodies to MeCP2. Tau promoter driven EGFP expression highlights neuronal cells.
Anne Lehmkuhl (103440) +10 more
core +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational NeurologyObjective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions.
Alex Joseph Simon +12 more
doaj +1 more source
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Science, 2008 Maria H. Chahrour +6 more
semanticscholar +1 more source
Der Einfluss von MeCP2 auf Barriereeigenschaften der Blut-Hirn Schranke
, 2018 Das Rett-Syndrom ist eine schwere, progressiv verlaufende neurologische Entwicklungsstörung mit der Prävalenz von 1:15000 in Österreich. Als häufigste Ursache für das klassische Rett-Syndrom wird eine Mutation des Methyl-CpG-bindenden Proteins 2 (MECP2 ...
Reitner, Alexander
core