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Mus musculus

ABSTRACT: Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

PROVIDER: PRJNA347654 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR4413211.fastq.gz	Fastqsanger.gz
	SRR4413212.fastq.gz	Fastqsanger.gz
	SRR4413213.fastq.gz	Fastqsanger.gz
	SRR4413214.fastq.gz	Fastqsanger.gz
	SRR4413215.fastq.gz	Fastqsanger.gz

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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Project description:Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to decreased levels of brain BCAAs, abnormal mRNA translation and severe neurological abnormalities. Furthermore, we identified several patients with autistic traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate a neurological syndrome defined by SLC7A5 mutations and support an essential role for the BCAA in human brain function.

2016-12-22 | GSE87808 | GEO

Secretome protein enrichment with click sugars (SPECS) analysis on primary neurons cultured from embryos derived from pregnant mice treated with or without valproic acid

Project description:Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social communication and repetitive behaviors. In recent years, a pharmacological mouse model of ASD involving maternal administration of valproic acid (VPA) has become widely used. Newborn pups in this model show an abnormal balance between excitatory and inhibitory (E/I) signaling in neurons and exhibit ASD-like behavior. To elucidate the molecular basis of this model, we analyzed secretome of primary neurons cultured from embryos maternally treated with or without VPA.

2024-10-26 | PXD042099 | JPOST Repository

Homo sapiens

Project description:MicroRNA biomarkers in blood for Autism spectrum disorder

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Sexual Divergence in Microtubule Function: The Novel Intranasal Microtubule Targeting SKIP Normalizes Axonal Transport and Enhances Memory

Project description:Activity-dependent neuroprotective protein (ADNP), essential for brain formation, is a frequent autism spectrum disorder (ASD)-mutated gene. ADNP associates with microtubule end binding proteins (EBs) through its SxIP motif, to regulate dendritic spine formation and brain plasticity. Here, we reveal SKIP, a novel 4 amino acid peptide representing an EB-binding site, as a replacement therapy in an outbred Adnp-deficient mouse model. We discovered, for the first time, axonal transport deficits in Adnp+/- mice (measured by manganese-enhanced magnetic resonance imaging), with significant male-female differences. Furthermore, the Adnp+/- mice exhibited impaired hippocampal expression of key ASD-linked genes including the serotonin transporter (Slc6a4), the calcium channel (VDCC) and the autophagy regulator, BECN1 (Beclin1), in a sex-dependent manner. RNA-seq evaluations corroborated, in part, immunohistochemical and functional results. Intranasal SKIP treatment normalized social memory in 8-9-month-old Adnp+/--treated mice to placebo-control levels, while protecting axonal transport and ameliorating changes in ASD-like gene expression. SKIP presents a novel lead compound for ASD drug development, a prevalent unmet medical need.

2017-06-29 | GSE72664 | GEO

Biallelic PAX5 mutations cause hypogammaglobulinemia,sensorimotor deficits and autism spectrum disorder

Project description:Biallelic PAX5 mutations cause hypogammaglobulinemia,sensorimotor deficits and autism spectrum disorder

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SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons

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Gene expression in blood of children with autism spectrum disorder

Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Keywords: autism analysis

2008-06-26 | GSE6575 | GEO

Immune Gene Expression in Monocytes from Autism Spectrum Disorders

Project description:To examine how activation of different toll-like receptors (TLR) impacts gene expression in Autism Spectrum Disorder (ASD), we cultured peripheral blood monocytes from children with ASD, Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or Asperger and typically developing children and treated them with either lipoteichoic acid (LTA) or lipopolysaccharide (LPS) to activate LTR2 or 4 respectively. Following 24 hours of stimulation, we then performed RNA sequencing to profile mRNA responses between non-treated (NT), LTA and LPS treated samples for each diagnosis (control or ASD).

2021-12-17 | GSE140702 | GEO

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Project description:Individualized outcome prediction classifiers were successfully constructed through expression profiling of 91 up-regulated and 67 down-regulated miRNAs in 5 autism spectrum disorder (ASD) cases and 5 controls. In the study presented here, a well-defined cohort of 5 autism spectrum disorder cases and 5 controls was used to acquire expression profiles of 91 up-regulated and 67 down-regulated miRNAs, leading to the first global miRNA expression profile of ASD in China.

2015-04-17 | E-GEOD-67979 | biostudies-arrayexpress

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