Neurobiology of autism gene products: towards pathogenesis and drug targets. (Q38178068)

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5 March 2020

title

Neurobiology of autism gene products: towards pathogenesis and drug targets (English)

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6

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5 March 2020

Dilja Krueger-Burg

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5 March 2020

Peter Scheiffele

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Nils Brose

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5 March 2020

author name string

Kristel T E Kleijer

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5 March 2020

Michael J Schmeisser

2

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5 March 2020

Tobias M Boeckers

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5 March 2020

J Peter H Burbach

8

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publication date

14 January 2014

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5 March 2020

volume

231

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5 March 2020

issue

6

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5 March 2020

page(s)

1037-1062

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Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice

5 March 2020

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The Autistic Neuron: Troubled Translation?

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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

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Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant

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Modeling Human Disease in Humans: The Ciliopathies

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

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Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

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Novel de novo SHANK3 mutation in autistic patients

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12 December 2020

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

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12 December 2020

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export

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Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling

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Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

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Deletion of alpha-neurexins does not cause a major impairment of axonal pathfinding or synapse formation

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Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration

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Neuroligin-1-dependent competition regulates cortical synaptogenesis and synapse number

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Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo

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Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses

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Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders.

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12 December 2020

Synapse- and stimulus-specific local translation during long-term neuronal plasticity

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PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

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Modeling autism by SHANK gene mutations in mice

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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

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Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

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Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

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High frequency of neurexin 1beta signal peptide structural variants in patients with autism

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Higher-order architecture of cell adhesion mediated by polymorphic synaptic adhesion molecules neurexin and neuroligin

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Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

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Translational animal models of autism and neurodevelopmental disorders.

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Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior

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Control of excitatory and inhibitory synapse formation by neuroligins

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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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Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

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PTEN signaling in autism spectrum disorders

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Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

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The story of Rett syndrome: from clinic to neurobiology

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Activity-dependent neuronal signalling and autism spectrum disorder

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Function of PTEN during the formation and maintenance of neuronal circuits in the brain

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A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins

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Metabotropic glutamate receptor activation regulates fragile x mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

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Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

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Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

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Topoisomerases facilitate transcription of long genes linked to autism

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Genetic advances in autism: heterogeneity and convergence on shared pathways

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Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism

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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

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Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

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The GABA excitatory/inhibitory shift in brain maturation and neurological disorders

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SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

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Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

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PTEN: from pathology to biology

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Studying autism in rodent models: reconciling endophenotypes with comorbidities

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Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.

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Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

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12 December 2020

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

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Reversal of neurological defects in a mouse model of Rett syndrome

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Neuroligins and neurexins link synaptic function to cognitive disease

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12 December 2020

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

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12 December 2020

Contribution of SHANK3 mutations to autism spectrum disorder

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12 December 2020

PTEN hamartoma tumor syndromes.

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Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3

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Connecting genes to brain in the autism spectrum disorders

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Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

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12 December 2020

Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism

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Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

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12 December 2020

Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation

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12 December 2020

Refuting the challenges of the developmental shift of polarity of GABA actions: GABA more exciting than ever!

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Animal models of autism spectrum disorder (ASD): a synaptic-level approach to autistic-like behavior in mice

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The role of neurexins in schizophrenia and autistic spectrum disorder.

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ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

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Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior

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12 December 2020

PTEN is essential for cell migration but not for fate determination and tumourigenesis in the cerebellum

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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

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Molecular characterization of a patient with 3p deletion syndrome and a review of the literature

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Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

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Ion channel functional candidate genes in multigenic neuropsychiatric disease

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The Shank family of scaffold proteins

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The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing

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Selective deletion of PTEN in dopamine neurons leads to trophic effects and adaptation of striatal medium spiny projecting neurons

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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Animal models of autism with a particular focus on the neural basis of changes in social behaviour: an update article

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Synapse pathology in psychiatric and neurologic disease

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12 December 2020

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

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Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects

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12 December 2020

Targeting the endocannabinoid system in the treatment of fragile X syndrome.

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12 December 2020

Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons

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12 December 2020

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

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12 December 2020

Mutations causing syndromic autism define an axis of synaptic pathophysiology

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12 December 2020

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level

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Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: current status and future perspectives

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From genes to cognition in tuberous sclerosis: implications for mTOR inhibitor-based treatment approaches

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Environmental factors in autism

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Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

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Pten ablation in adult dopaminergic neurons is neuroprotective in Parkinson's disease models.

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12 December 2020

An open-label naturalistic pilot study of acamprosate in youth with autistic disorder

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From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

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

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Functional impact of global rare copy number variation in autism spectrum disorders

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The mGluR theory of fragile X mental retardation

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Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

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Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

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Reversing neurodevelopmental disorders in adults

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Autism risk factors: genes, environment, and gene-environment interactions

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Genetic architecture in autism spectrum disorder

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10.1007/S00213-013-3403-3

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