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 …

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 …

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 …

[HTML][HTML] The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex

PWE Spratt, R Ben-Shalom, CM Keeshen, KJ Burke… - Neuron, 2019 - cell.com
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 …

[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 …

[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 …

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 …

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 …

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 …

A framework for the investigation of rare genetic disorders in neuropsychiatry

SJ Sanders, M Sahin, J Hostyk, A Thurm… - Nature medicine, 2019 - nature.com
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …