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Autor:
Lital Sharvit, Yonatan Feuermann, Lilach Simchi, Julia Panov, Prudhvi Raj Rayi, Hanoch Kaphzan, Lee Koyavski
Publikováno v:
Molecular Neurobiology. 56:5998-6016
Angelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, and seizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS
Publikováno v:
Progress in neurobiology. 182
Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of the maternal copy of the UBE3A gene. Previous studies reported an increase in α1-Na/K-ATPase (α1-NaKA) expression in the AS hippocampus at the age of 2 weeks