Lessons learned from studying syndromic autism spectrum disorders (Q38992291)

8 September 2017

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title

Lessons learned from studying syndromic autism spectrum disorders (English)

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8 September 2017

autism spectrum disorder

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Huda Y Zoghbi

2

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author name string

Yehezkel Sztainberg

series ordinal

1

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PubMed ID

27786181

8 September 2017

language of work or name

English

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publication date

1 October 2016

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8 September 2017

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8 September 2017

19

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8 September 2017

11

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8 September 2017

1408-1417

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https://scigraph.springernature.com/pub.10.1038/nn.4420

8 September 2017

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

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Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

21 January 2018

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Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

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21 January 2018

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Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

21 January 2018

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Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

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Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

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Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

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Correction of fragile X syndrome in mice.

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Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

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Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

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Evidence-based comprehensive treatments for early autism

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Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice

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Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

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Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

21 January 2018

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Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

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Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

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Potential therapeutic interventions for fragile X syndrome

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Clinical trials for neurodevelopmental disorders: At a therapeutic frontier.

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Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

21 January 2018

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Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

21 January 2018

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Gene-targeting pharmaceuticals for single-gene disorders

21 January 2018

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Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

21 January 2018

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From the genetic architecture to synaptic plasticity in autism spectrum disorder

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Removing brakes on adult brain plasticity: from molecular to behavioral interventions

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Treatment of neurodevelopmental disorders in adulthood

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

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12 December 2020

Modeling autism spectrum disorders with human neurons

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On a unusual brain atrophy syndrome in hyperammonemia in childhood

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Evidence that the gene for tuberous sclerosis is on chromosome 9

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12 December 2020

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

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12 December 2020

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12 December 2020

The relationship of Rett syndrome and MECP2 disorders to autism.

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12 December 2020

What We Have Learned about Autism Spectrum Disorder from Valproic Acid

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12 December 2020

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NN.4420

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8 September 2017

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PubMed ID

27786181