autism/phosphatase

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Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

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Logáil Isteach / Cláraigh

Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical

Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism

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Logáil Isteach / Cláraigh

Autism spectrum disorders (ASDs) are highly prevalent childhood illnesses characterized by impairments in communication, social behavior, and repetitive behaviors. Studies have found aberrant synaptic plasticity and neuronal connectivity during the early stages of brain development and have

Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

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Logáil Isteach / Cláraigh

BACKGROUND Phosphatase and tensin homolog (PTEN) negatively regulates downstream protein kinase B signaling, resulting in decreased cellular growth and proliferation. PTEN is mutated in a subset of children with autism spectrum disorder (ASD); however, the mechanism by which specific point mutations

IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase δ.

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Logáil Isteach / Cláraigh

Mental retardation (MR) and autism are highly heterogeneous neurodevelopmental disorders. IL-1-receptor accessory protein-like 1 (IL1RAPL1) is responsible for nonsyndromic MR and is associated with autism. Thus, the elucidation of the functional role of IL1RAPL1 will contribute to our understanding

Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex.

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Logáil Isteach / Cláraigh

BACKGROUND Candidate genes associated with idiopathic forms of autism overlap with other disorders including fragile X syndrome. Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in cerebellar

Hyperactivated PTP1B phosphatase in parvalbumin neurons alters anterior cingulate inhibitory circuits and induces autism-like behaviors.

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Logáil Isteach / Cláraigh

Individuals with autism spectrum disorder (ASD) have social interaction deficits and difficulty filtering information. Inhibitory interneurons filter information at pyramidal neurons of the anterior cingulate cortex (ACC), an integration hub for higher-order thalamic inputs important for social

Human adipose-derived stem cells ameliorate repetitive behavior, social deficit and anxiety in a VPA-induced autism mouse model.

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Logáil Isteach / Cláraigh

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in social interaction and communication, and patients often display co-occurring repetitive behaviors. Although the global prevalence of ASD has increased over time, the etiology and treatments for

Autism-relevant behaviors are minimally impacted by conditional deletion of Pten in oxytocinergic neurons.

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Logáil Isteach / Cláraigh

Germline heterozygous mutations in Pten (phosphatase and tensin homolog) are associated with macrocephaly and autism spectrum disorders (ASD). Pten germline heterozygous (Pten+/- ) mice approximate these mutations, and both sexes show widespread brain overgrowth and impaired social behavior.

Inactivation of the catalytic phosphatase domain of PTPRT/RPTPρ increases social interaction in mice.

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Logáil Isteach / Cláraigh

Receptor protein tyrosine phosphatase rho (RPTPρ, gene symbol PTPRT) is a transmembrane protein expressed at high levels in the developing hippocampus, olfactory bulb, cortex, and cerebellum. It has an extracellular domain that interacts with other cell adhesion molecules, and it has two

Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.

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Logáil Isteach / Cláraigh

The activity-regulated gene expression of transcription factors is required for neural plasticity and function in response to neuronal stimulation. T-brain-1 (TBR1), a critical neuron-specific transcription factor for forebrain development, has been recognized as a high-confidence risk gene for

Maternal treatment with oral intestinal alkaline phosphatase mitigates high fat diet-induced cognitive disorders in offspring mice

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Logáil Isteach / Cláraigh

Intestinal alkaline phosphatase (IAP) is an endogenous enzyme that promotes gastrointestinal homeostasis by detoxifying inflammatory mediators, tightening the gut barrier and promoting a healthy microbiome. Oral IAP administration was efficacious in ameliorating diabetes in a high fat diet

Nutritional Rickets Presenting as Chronic Episodic Extremity Pain in a 9-year-old with Autism.

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Logáil Isteach / Cláraigh

Rickets due to vitamin D deficiency, typically presenting as bowed legs in toddlers, is uncommon in the modern era. We describe the case of a nine-year-old girl with autism and developmental delay who was evaluated for chronic intermittent extremity pain for more than one year prior to referral to

Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders.

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Logáil Isteach / Cláraigh

OBJECTIVE This study aims at identifying master regulators of transcriptional networks in autism spectrum disorders (ASDs). RESULTS With two sets of independent RNA-Seq data generated on cerebellum from patients with ASDs and control subjects (N = 39 and 45 for set 1, N = 24 and 38 for set 2,

Defective phosphoinositide metabolism in autism.

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Logáil Isteach / Cláraigh

Phosphoinositides are essential components of lipid membranes and crucial regulators of many cellular functions, including signal transduction, vesicle trafficking, membrane receptor localization and activity, and determination of membrane identity. These functions depend on the dynamic and highly

Identification of Novel Inhibitor of Protein Tyrosine Phosphatases Delta: Structure-Based Pharmacophore Modeling, Virtual Screening, Flexible Docking, Molecular Dynamics Simulation, and Post-Molecular Dynamics Analysis.

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Logáil Isteach / Cláraigh

Owing to their unique functions in regulating the synapse activity of Protein Tyrosine Phosphatases Delta (PTPδ) that has drawn special attention for developing drugs to Autism Spectrum Disorders (ASDs). In this study, the PTPδ pharmacophore was first established by the structure based pharmacophore

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