(Q89960154)

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Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

scientific article published on 27 February 2020

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scholarly article

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10 April 2020

Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes (English)

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10 April 2020

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4

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10 April 2020

author name string

Wei Zhang

1

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10 April 2020

Li Ma

2

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10 April 2020

Mei Yang

3

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10 April 2020

Jian Xu

5

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10 April 2020

Zhipeng Lu

6

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10 April 2020

Zhen Zhao

7

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10 April 2020

Rong Chen

8

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10 April 2020

Yang Chai

9

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10 April 2020

Jian-Fu Chen

10

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10 April 2020

publication date

27 February 2020

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10 April 2020

Genes & Development

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10 April 2020

34

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10 April 2020

7-8

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10 April 2020

580-597

1 reference

Europe PubMed Central

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10 April 2020

Rotorod sensorimotor learning in cerebellar mutant mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

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A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Changes in cell-cycle kinetics during the development and evolution of primate neocortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of brain overgrowth in the first year of life in autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

AKT/PKB signaling: navigating downstream

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neural stem and progenitor cells in cortical development

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cdk4/cyclinD1 overexpression in neural stem cells shortens G1, delays neurogenesis, and promotes the generation and expansion of basal progenitors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavioural phenotyping assays for mouse models of autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MK-2206, an allosteric Akt inhibitor, enhances antitumor efficacy by standard chemotherapeutic agents or molecular targeted drugs in vitro and in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Animal models of neuropsychiatric disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for intermediate radial glia in the tangential expansion of the mammalian cerebral cortex.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new subtype of progenitor cell in the mouse embryonic neocortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuron number and size in prefrontal cortex of children with autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic activation of AKT3 causes hemispheric developmental brain malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autism genetics: searching for specificity and convergence

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of cerebral cortex size and folding by expansion of basal progenitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conical expansion of the outer subventricular zone and the role of neocortical folding in evolution and development

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral organoids model human brain development and microcephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome engineering using the CRISPR-Cas9 system

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell-derived neocortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophages

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patches of disorganization in the neocortex of children with autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal changes in cortical thickness in autism and typical development

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synaptic dysregulation in a human iPS cell model of mental disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated β-Catenin Signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased Surface Area, but not Cortical Thickness, in a Subset of Young Boys With Autism Spectrum Disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular identity of human outer radial glia during cortical development

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

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Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Induction of Expansion and Folding in Human Cerebral Organoids

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

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Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavioral Phenotyping Assays for Genetic Mouse Models of Neurodevelopmental, Neurodegenerative, and Psychiatric Disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early brain development in infants at high risk for autism spectrum disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined Targeting of mTOR and Akt Using Rapamycin and MK-2206 in The Treatment of Tuberous Sclerosis Complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell diversity and network dynamics in photosensitive human brain organoids.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline Chd8 haploinsufficiency alters brain development in mouse.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The PI3K Pathway in Human Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of brain organoids to investigate neural development and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Toward a conceptual framework for early brain and behavior development in autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal mTOR Activation in Autism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ASD Living Biology: from cell proliferation to clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/32115408

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/GAD.332494.119

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32115408%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32115408%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32115408%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

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