Search Results - "Maloney, Susan E."
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Anti-Tau Antibodies that Block Tau Aggregate Seeding In Vitro Markedly Decrease Pathology and Improve Cognition In Vivo
Published in Neuron (Cambridge, Mass.) (16-10-2013)“…Tau aggregation occurs in neurodegenerative diseases including Alzheimer’s disease and many other disorders collectively termed tauopathies. trans-cellular…”
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2
Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?
Published in Neuron (Cambridge, Mass.) (19-10-2022)“…Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a “female protective effect” (FPE) envisions males and females have…”
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3
Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain
Published in Nature communications (09-03-2021)“…Quaking RNA binding protein (QKI) is essential for oligodendrocyte development as myelination requires myelin basic protein mRNA regulation and localization by…”
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4
Fluoxetine exposure throughout neurodevelopment differentially influences basilar dendritic morphology in the motor and prefrontal cortices
Published in Scientific reports (09-05-2022)“…The significance of serotonin (5HT) in mental health is underscored by the serotonergic action of many classes of psychiatric medication. 5HT is known to have…”
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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis
Published in Nature communications (23-11-2021)“…The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly understood. Here, we develop a large-scale assay to…”
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6
The trajectory of gait development in mice
Published in Brain and behavior (01-06-2020)“…Objective Gait irregularities are prevalent in neurodevelopmental disorders (NDDs). However, there is a paucity of information on gait phenotypes in NDD…”
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Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Published in BMC biology (28-07-2021)“…Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs…”
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Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits
Published in Cell reports (Cambridge) (28-11-2023)“…Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct…”
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Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB
Published in Journal of neurodevelopmental disorders (17-04-2024)“…Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available…”
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10
Translational profiling of hypocretin neurons identifies candidate molecules for sleep regulation
Published in Genes & development (01-03-2013)“…Hypocretin (orexin; Hcrt)-containing neurons of the hypothalamus are essential for the normal regulation of sleep and wake behaviors and have been implicated…”
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Ontogenetic Oxycodone Exposure Affects Early Life Communicative Behaviors, Sensorimotor Reflexes, and Weight Trajectory in Mice
Published in Frontiers in behavioral neuroscience (22-02-2021)“…Nationwide, opioid misuse among pregnant women has risen four-fold from 1999 to 2014, with commensurate increase in neonates hospitalized for neonatal…”
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Characterization of early communicative behavior in mouse models of neurofibromatosis type 1
Published in Autism research (01-01-2018)“…Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss‐of‐function mutations in the NF1 tumor suppressor gene…”
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13
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Published in Cell reports (Cambridge) (06-11-2018)“…Mutations of the transcriptional regulator PHF6 cause the X-linked intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS), but the…”
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14
Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders
Published in Journal of neurodevelopmental disorders (20-03-2021)“…Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams…”
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Oxytocin-induced birth causes sex-specific behavioral and brain connectivity changes in developing rat offspring
Published in iScience (16-02-2024)“…Despite six decades of the use of exogenous oxytocin for management of labor, little is known about its effects on the developing brain. Motivated by…”
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Examining the Reversibility of Long-Term Behavioral Disruptions in Progeny of Maternal SSRI Exposure
Published in eNeuro (01-07-2018)“…Serotonergic dysregulation is implicated in numerous psychiatric disorders. Serotonin plays widespread trophic roles during neurodevelopment; thus…”
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17
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models
Published in Human molecular genetics (15-10-2019)“…Williams syndrome (WS) is a neurodevelopmental disorder caused by a 1.5-1.8 Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes…”
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Anti-Tau Antibodies that Block Tau Aggregate Seeding In Vitro Markedly Decrease Pathology and Improve Cognition In Vivo
Published in Neuron (Cambridge, Mass.) (18-12-2013)Get full text
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19
Abnormal Microglia and Enhanced Inflammation-Related Gene Transcription in Mice with Conditional Deletion of Ctcf in Camk2a-Cre -Expressing Neurons
Published in The Journal of neuroscience (03-01-2018)“…CCCTC-binding factor (CTCF) is an 11 zinc finger DNA-binding domain protein that regulates gene expression by modifying 3D chromatin structure. Human mutations…”
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20
Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties
Published in Proceedings of the National Academy of Sciences - PNAS (20-08-2024)“…Astrotactin 2 (ASTN2) is a transmembrane neuronal protein highly expressed in the cerebellum that functions in receptor trafficking and modulates cerebellar…”
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