Alexandra L Bey

Journal article eNeuro · November 2025 Emotional dysregulation is highly comorbid with sleep disturbances. Sleep is composed of unique physiological states that are reflected by conserved brain oscillations. Though the role of these state-dependent oscillations in cognitive function has been we ... Full text Link to item Cite

Automated Video Tracking of Autistic Children's Movement During Caregiver-Child Interaction: An Exploratory Study.

Journal article J Autism Dev Disord · October 2024 Objective, quantitative measures of caregiver-child interaction during play are needed to complement caregiver or examiner ratings for clinical assessment and tracking intervention responses. In this exploratory study, we examined the feasibility of using ... Full text Link to item Cite

Automated movement tracking of young autistic children during free play is correlated with clinical features associated with autism.

Journal article Autism · November 2023 Play-based observations allow researchers to observe autistic children across a wide range of ages and skills. We recorded autistic children playing with toys in the center of a room and at a corner table while a caregiver remained seated off to the side a ... Full text Link to item Cite

Eye-tracking measures of social versus nonsocial attention are related to level of social engagement during naturalistic caregiver-child interactions in autistic children.

Journal article Autism Res · May 2023 Eye-tracking (ET) measures indexing social attention have been proposed as sensitive measures related to autism, but less is known about the relationship between social and nonsocial attention and naturalistic measures of social engagement and whether sex ... Full text Link to item Cite

Brain-wide electrical dynamics encode individual appetitive social behavior.

Journal article Neuron · May 18, 2022 The architecture whereby activity across many brain regions integrates to encode individual appetitive social behavior remains unknown. Here we measure electrical activity from eight brain regions as mice engage in a social preference assay. We then use ma ... Full text Link to item Cite

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.

Journal article Pediatrics · February 2020 Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with SH3 and multiple ankyrin repeat domains 3 (SHANK3) mutations, a subs ... Full text Link to item Cite

Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders.

Journal article JCI Insight · December 6, 2018 OXTR modulates a variety of behaviors in mammals, including social memory and recognition. Genetic and epigenetic dysregulation of OXTR has been suggested to be implicated in neuropsychiatric disorders, including autism spectrum disorder (ASD). While the i ... Full text Link to item Cite

Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder.

Journal article Brain Behav · November 2018 INTRODUCTION: Several studies have supported the use of enriched environments to prevent the manifestation of ASD-like phenotypes in laboratory rodents. While the translational value of such experiments is unknown, the findings have been relatively consist ... Full text Link to item Cite

Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors.

Journal article Transl Psychiatry · April 27, 2018 We previously reported a new line of Shank3 mutant mice which led to a complete loss of Shank3 by deleting exons 4-22 (Δe4-22) globally. Δe4-22 mice display robust ASD-like behaviors including impaired social interaction and communication, increased stereo ... Full text Link to item Cite

Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model.

Journal article Neurobiol Dis · February 2018 Epilepsy is prevalent and often medically intractable in Angelman syndrome (AS). AS mouse model (Ube3am-/p+) shows reduced excitatory neurotransmission but lower seizure threshold. The neural mechanism linking the synaptic dysfunction to the seizure remain ... Full text Link to item Cite

Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.

Journal article JCI Insight · October 19, 2017 Genetic defects in the synaptic scaffolding protein gene, SHANK2, are linked to a variety of neuropsychiatric disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and bipolar disorder, but the molecular mechanisms underly ... Full text Link to item Cite

SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons.

Journal article Neuron · December 21, 2016 Abnormal pain sensitivity is commonly associated with autism spectrum disorders (ASDs) and affects the life quality of ASD individuals. SHANK3 deficiency was implicated in ASD and pain dysregulation. Here, we report functional expression of SHANK3 in mouse ... Full text Open Access Link to item Cite

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.

Journal article Nat Commun · May 10, 2016 Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout m ... Full text Open Access Link to item Cite

Overview of mouse models of autism spectrum disorders.

Journal article Curr Protoc Pharmacol · September 2, 2014 This overview describes many well characterized mouse models of autism spectrum disorders (ASDs). Mouse models considered here were selected because they are examples of genetically engineered models where human genetic evidence supports a causative relati ... Full text Link to item Cite

Therapeutic approaches for shankopathies.

Journal article Dev Neurobiol · February 2014 Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogene ... Full text Link to item Cite

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice.

Journal article Mol Autism · 2014 BACKGROUND: Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a ... Full text Open Access Link to item Cite

Synaptic plasticity in mouse models of autism spectrum disorders.

Journal article Korean J Physiol Pharmacol · December 2012 Analysis of synaptic plasticity together with behavioral and molecular studies have become a popular approach to model autism spectrum disorders in order to gain insight into the pathosphysiological mechanisms and to find therapeutic targets. Abnormalities ... Full text Link to item Cite

Expression and genetic loss of function analysis of the HAT/DESC cluster proteases TMPRSS11A and HAT.

Journal article PLoS One · 2011 Genome mining at the turn of the millennium uncovered a new family of type II transmembrane serine proteases (TTSPs) that comprises 17 members in humans and 19 in mice. TTSPs phylogenetically belong to one of four subfamilies: matriptase, hepsin/TMPRSS, co ... Full text Link to item Cite

Selective abrogation of the uPA-uPAR interaction in vivo reveals a novel role in suppression of fibrin-associated inflammation.

Journal article Blood · September 2, 2010 The urokinase plasminogen activator receptor (uPAR) has emerged as a potential regulator of cell adhesion, cell migration, proliferation, differentiation, and cell survival in multiple physiologic and pathologic contexts. The urokinase plasminogen activato ... Full text Link to item Cite

Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.

Journal article Nat Genet · August 2010 Deficiency in the serine protease inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the stratum corneum and chronic inflammation. Here we show that the membrane protease matriptase initiates Netherton syndrome in a ... Full text Link to item Cite

Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.

Journal article Am J Pathol · October 2009 A pericellular proteolytic pathway initiated by the transmembrane serine protease matriptase plays a critical role in the terminal differentiation of epidermal tissues. Matriptase is constitutively expressed in multiple other epithelia, suggesting a putati ... Full text Link to item Cite

The role of AtMUS81 in interference-insensitive crossovers in A. thaliana.

Journal article PLoS Genet · August 2007 MUS81 is conserved among plants, animals, and fungi and is known to be involved in mitotic DNA damage repair and meiotic recombination. Here we present a functional characterization of the Arabidopsis thaliana homolog AtMUS81, which has a role in both mito ... Full text Link to item Cite

Pollen tetrad-based visual assay for meiotic recombination in Arabidopsis.

Journal article Proc Natl Acad Sci U S A · March 6, 2007 Recombination, in the form of cross-overs (COs) and gene conversion (GC), is a highly conserved feature of meiosis from fungi to mammals. Recombination helps ensure chromosome segregation and promotes allelic diversity. Lesions in the recombination machine ... Full text Link to item Cite