In recent years, gene therapy has been raising hopes toward viable treatment strategies for rare genetic diseases for which there has been almost exclusively supportive treatment. We …
S Silva-Santos, GM Van Woerden… - The Journal of …, 2015 - Am Soc Clin Investig
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin protein ligase E3A (UBE3A) allele. Due to neuron-specific …
LM Bird - The application of clinical genetics, 2014 - Taylor & Francis
“Angelman syndrome”(AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The …
SV Dindot, S Christian, WJ Murphy, A Berent… - Science Translational …, 2023 - science.org
Angelman syndrome is a devastating neurogenetic disorder for which there is currently no effective treatment. It is caused by mutations or epimutations affecting the expression or …
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life development of the brain, leading to deficits in language, cognition, motor behaviour and …
C Cao, MS Rioult-Pedotti, P Migani, CJ Yu… - PLoS …, 2013 - journals.plos.org
Angelman syndrome (AS) is a neurodevelopment disorder characterized by severe cognitive impairment and a high rate of autism. AS is caused by disrupted neuronal …
AJ Robison - Trends in neurosciences, 2014 - cell.com
Although it has been known for decades that hippocampal calcium/calmodulin (CaM)- dependent protein kinase II (CaMKII) plays an essential role in learning and memory …
KA Lau, X Yang, MS Rioult-Pedotti, S Tang… - Progress in …, 2023 - Elsevier
Angelman Syndrome (AS) is a severe cognitive disorder caused by loss of neuronal expression of the E3 ubiquitin ligase UBE3A. In an AS mouse model, we previously reported …
Significance: Impairment of the ubiquitin-proteasome system (UPS) has been implicated in the pathogenesis of a wide variety of neurodegenerative disorders, including Alzheimer's …