Assessing spatial learning and memory in rodents

CV Vorhees, MT Williams - ILAR journal, 2014 - academic.oup.com
Maneuvering safely through the environment is central to survival of almost all species. The
ability to do this depends on learning and remembering locations. This capacity is encoded …

Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord

TL Jensen, CR Gøtzsche… - Frontiers in molecular …, 2021 - frontiersin.org
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 …

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

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 …

Angelman syndrome: review of clinical and molecular aspects

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 …

An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript

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 …

An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy

MJ Millan - Neuropharmacology, 2013 - Elsevier
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

Impairment of TrkB-PSD-95 signaling in Angelman syndrome

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 …

Emerging role of CaMKII in neuropsychiatric disease

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 …

A PSD-95 peptidomimetic mitigates neurological deficits in a mouse model of Angelman syndrome

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 …

The ubiquitin-proteasome system in neurodegeneration

C McKinnon, SJ Tabrizi - Antioxidants & redox signaling, 2014 - liebertpub.com
Significance: Impairment of the ubiquitin-proteasome system (UPS) has been implicated in
the pathogenesis of a wide variety of neurodegenerative disorders, including Alzheimer's …