New frontiers in modeling tuberous sclerosis with human stem cell-derived neurons and brain organoids (Q91880863)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

title

New frontiers in modeling tuberous sclerosis with human stem cell-derived neurons and brain organoids (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

John D Blair

1 reference

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25 April 2020

publication date

23 May 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

published in

Developmental Dynamics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

volume

249

1 reference

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25 April 2020

issue

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

page(s)

46-55

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

25 April 2020

cites work

1 reference

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mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia

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Shared and derived features of cellular diversity in the human cerebral cortex

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Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models

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Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors

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Neural progenitors derived from Tuberous Sclerosis Complex patients exhibit attenuated PI3K/AKT signaling and delayed neuronal differentiation

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Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination

23 February 2021

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Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

23 February 2021

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Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

23 February 2021

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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

23 February 2021

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Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

23 February 2021

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Widespread Translational Remodeling during Human Neuronal Differentiation

23 February 2021

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

23 February 2021

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Human Astrocyte Maturation Captured in 3D Cerebral Cortical Spheroids Derived from Pluripotent Stem Cells.

23 February 2021

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Systematic gene tagging using CRISPR/Cas9 in human stem cells to illuminate cell organization

23 February 2021

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The genomic landscape of tuberous sclerosis complex

23 February 2021

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Generation of pure GABAergic neurons by transcription factor programming

23 February 2021

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Assembly of functionally integrated human forebrain spheroids

23 February 2021

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Cell diversity and network dynamics in photosensitive human brain organoids.

23 February 2021

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mTORC1 signaling and the metabolic control of cell growth

23 February 2021

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Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

23 February 2021

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mTOR Signaling in Growth, Metabolism, and Disease.

23 February 2021

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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

23 February 2021

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Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

23 February 2021

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

23 February 2021

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Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex

23 February 2021

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23 February 2021

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Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model.

23 February 2021

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Normalizing translation through 4E-BP prevents mTOR-driven cortical mislamination and ameliorates aberrant neuron integration.

23 February 2021

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Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

23 February 2021

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The mTOR signalling cascade: paving new roads to cure neurological disease

23 February 2021

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

23 February 2021

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Induced Pluripotent Stem Cells Meet Genome Editing

23 February 2021

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

23 February 2021

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mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

23 February 2021

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Establishment of Genome-edited Human Pluripotent Stem Cell Lines: From Targeting to Isolation

23 February 2021

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

23 February 2021

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Molecular identity of human outer radial glia during cortical development

23 February 2021

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Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

23 February 2021

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Neurological and neuropsychiatric aspects of tuberous sclerosis complex

23 February 2021

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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

23 February 2021

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Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

23 February 2021

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mTOR signaling in epilepsy: insights from malformations of cortical development

23 February 2021

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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

23 February 2021

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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

23 February 2021

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23 February 2021

The neurology of mTOR

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The effects of everolimus on tuberous sclerosis-associated lesions can be dramatic but may be impermanent

23 February 2021

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iPS cell technologies: significance and applications to CNS regeneration and disease

23 February 2021

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

23 February 2021

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mTOR complexes in neurodevelopmental and neuropsychiatric disorders

23 February 2021

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Cerebral organoids model human brain development and microcephaly

23 February 2021

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Rapid single-step induction of functional neurons from human pluripotent stem cells

23 February 2021

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Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis

23 February 2021

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RNA-programmed genome editing in human cells

23 February 2021

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Evolving neurobiology of tuberous sclerosis complex

23 February 2021

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Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

23 February 2021

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mTOR signaling in neural stem cells: from basic biology to disease

23 February 2021

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MRI characterization and longitudinal study of focal cerebellar lesions in a young tuberous sclerosis cohort

23 February 2021

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TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1

23 February 2021

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Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

23 February 2021

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

23 February 2021

1 reference

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Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia

23 February 2021

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Tuberous sclerosis and epilepsy: role of astrocytes

23 February 2021

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Genotype and cognitive phenotype of patients with tuberous sclerosis complex

23 February 2021

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Mutations causing syndromic autism define an axis of synaptic pathophysiology

23 February 2021

1 reference

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Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

23 February 2021

1 reference

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Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations

23 February 2021

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Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

23 February 2021

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Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

23 February 2021

1 reference

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Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

23 February 2021

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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events

23 February 2021

1 reference

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Biallelic TSC gene inactivation in tuberous sclerosis complex

23 February 2021

1 reference

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Managing and understanding epilepsy in tuberous sclerosis complex

23 February 2021

1 reference

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Neurogenic radial glia in the outer subventricular zone of human neocortex

23 February 2021

1 reference

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Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications

23 February 2021

1 reference

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The natural history of epilepsy in tuberous sclerosis complex

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

23 February 2021

1 reference

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Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Functional neural development from human embryonic stem cells: accelerated synaptic activity via astrocyte coculture.

23 February 2021

1 reference

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Generation of a conditional disruption of the Tsc2 gene

23 February 2021

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The tuberous sclerosis complex

23 February 2021

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Growing roles for the mTOR pathway

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Abnormal cortical cells and astrocytomas in the Eker rat model of tuberous sclerosis complex

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Morphology of cerebral lesions in the Eker rat model of tuberous sclerosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Neuropathology of tuberous sclerosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Complete inactivation of the TSC2 gene leads to formation of hamartomas

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Cerebellar pathology in tuberous sclerosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Loss of heterozygosity in tuberous sclerosis hamartomas.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Identification and characterization of the tuberous sclerosis gene on chromosome 16

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

Hereditary renal adenomas and adenocarcinomas in rats

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6995669

23 February 2021

Identifiers

DOI

10.1002/DVDY.60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

PubMed publication ID

31070828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31070828%20AND%20SRC:MED&resulttype=core&format=json