UBE3A regulates the transcription of IRF, an antiviral immunity
R Furumai, K Tamada, X Liu… - Human Molecular …, 2019 - academic.oup.com
UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a
neurodevelopmental disorder characterized by symptoms such as intellectual disability …
neurodevelopmental disorder characterized by symptoms such as intellectual disability …
Potential therapeutic approaches for Angelman syndrome
Introduction: Angelman syndrome (AS) is a neurodevelopmental disorder caused by
deficiency of maternally inherited UBE3A, an ubiquitin E3 ligase. Despite recent progress in …
deficiency of maternally inherited UBE3A, an ubiquitin E3 ligase. Despite recent progress in …
[HTML][HTML] Taurine administration recovers motor and learning deficits in an Angelman syndrome mouse model
S Guzzetti, L Calzari, L Buccarello, V Cesari… - International journal of …, 2018 - mdpi.com
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:
10–20,000 children. Patients show moderate to severe intellectual disability, ataxia and …
10–20,000 children. Patients show moderate to severe intellectual disability, ataxia and …
Pharmakologische Therapien bei Angelman-Syndrom
WH Tan, LM Bird - Wiener Medizinische Wochenschrift, 2017 - Springer
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the
maternally inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism …
maternally inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism …
UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies
B Roy, E Amemasor, S Hussain, K Castro - Diseases, 2023 - mdpi.com
Published reports from the CDC's Autism and Development Disabilities Monitoring Networks
have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to …
have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to …
[HTML][HTML] Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome
Background Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by
disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability …
disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability …
Motor Deficits Coupled to Cerebellar and Striatal Alterations in Ube3am−/p+ Mice Modelling Angelman Syndrome Are Attenuated by Adenosine A2A Receptor …
A Moreira-de-Sá, FQ Gonçalves, JP Lopes… - Molecular …, 2021 - Springer
Angelman syndrome (AS) is a neurogenetic disorder involving ataxia and motor dysfunction,
resulting from the absence of the maternally inherited functional Ube3a protein in neurons …
resulting from the absence of the maternally inherited functional Ube3a protein in neurons …
Pharmacotherapeutic management of seizures in patients with Angleman syndrome
D Samanta - Expert Opinion on Pharmacotherapy, 2022 - Taylor & Francis
ABSTRACT Introduction Approximately 80–90% of patients with Angelman syndrome (AS)
develop childhood-onset intractable seizures with major negative impact on the quality of …
develop childhood-onset intractable seizures with major negative impact on the quality of …
Evaluation of a TrkB agonist on spatial and motor learning in the Ube3a mouse model of Angelman syndrome
MN Schultz, JN Crawley - Learning & Memory, 2020 - learnmem.cshlp.org
Angelman syndrome is a rare neurodevelopmental disorder caused by a mutation in the
maternal allele of the gene Ube3a. The primary symptoms of Angelman syndrome are …
maternal allele of the gene Ube3a. The primary symptoms of Angelman syndrome are …
Modulation of GABAA receptor function and sleep
Highlights•Binding sites on GABA A receptors have been located for steroids.•Zolpidem can
induce sleep by inhibiting histamine neurons.•GABA A receptors in the MPTA induce …
induce sleep by inhibiting histamine neurons.•GABA A receptors in the MPTA induce …