Glutamate synapses in human cognitive disorders
L Volk, SL Chiu, K Sharma… - Annual review of …, 2015 - annualreviews.org
Accumulating data, including those from large genetic association studies, indicate that
alterations in glutamatergic synapse structure and function represent a common underlying …
alterations in glutamatergic synapse structure and function represent a common underlying …
Modeling fragile X syndrome in the Fmr1 knockout mouse
TM Kazdoba, PT Leach, JL Silverman… - Intractable & rare …, 2014 - jstage.jst.go.jp
Summary Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability
and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of …
and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of …
Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours
B Lee, K Lee, S Panda, R Gonzales-Rojas… - Nature biomedical …, 2018 - nature.com
Technologies that can safely edit genes in the brains of adult animals may revolutionize the
treatment of neurological diseases and the understanding of brain function. Here, we …
treatment of neurological diseases and the understanding of brain function. Here, we …
[HTML][HTML] The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex
Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …
[HTML][HTML] Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice
A Bhattacharya, H Kaphzan, AC Alvarez-Dieppa… - Neuron, 2012 - cell.com
Fragile X syndrome (FXS) is the leading inherited cause of autism and intellectual disability.
Aberrant synaptic translation has been implicated in the etiology of FXS, but most lines of …
Aberrant synaptic translation has been implicated in the etiology of FXS, but most lines of …
[图书][B] Translational mouse models of autism: advancing toward pharmacological therapeutics
TM Kazdoba, PT Leach, M Yang, JL Silverman… - 2016 - Springer
Animal models provide preclinical tools to investigate the causal role of genetic mutations
and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and …
and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and …
Behavioral phenotypes of genetic mouse models of autism
TM Kazdoba, PT Leach… - Genes, Brain and …, 2016 - Wiley Online Library
More than a hundred de novo single gene mutations and copy‐number variants have been
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
Mouse and rat ultrasonic vocalizations in neuroscience and neuropharmacology: State of the art and future applications
M Premoli, S Pietropaolo, M Wöhr… - European Journal of …, 2023 - Wiley Online Library
Mice and rats emit ultrasonic vocalizations (USVs), which may express their arousal and
emotional states, to communicate with each other. There is continued scientific effort to …
emotional states, to communicate with each other. There is continued scientific effort to …
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486
BM Dolan, SG Duron, DA Campbell… - Proceedings of the …, 2013 - National Acad Sciences
Fragile X syndrome (FXS) is the most common inherited form of autism and intellectual
disability and is caused by the silencing of a single gene, fragile X mental retardation 1 …
disability and is caused by the silencing of a single gene, fragile X mental retardation 1 …
A framework for the investigation of rare genetic disorders in neuropsychiatry
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …