Evolving neurobiology of tuberous sclerosis complex (Q38079547)

28 August 2017

title

Evolving neurobiology of tuberous sclerosis complex (English)

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28 August 2017

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Peter B Crino

1

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28 August 2017

publication date

6 February 2013

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28 August 2017

published in

Acta Neuropathologica

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28 August 2017

volume

125

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28 August 2017

issue

3

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28 August 2017

page(s)

317-332

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Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex.

28 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Cellular localization of metabotropic glutamate receptors in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberous sclerosis complex proteins control axon formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

The tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Biallelic TSC gene inactivation in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Growth control under stress: mTOR regulation through the REDD1-TSC pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Mammalian TOR complex 2 controls the actin cytoskeleton and is rapamycin insensitive

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Markers of cellular proliferation are expressed in cortical tubers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Immunohistochemical characterization of subependymal giant cell astrocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Neuropathology of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Recent advances in neurobiology of Tuberous Sclerosis Complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

mTOR complex 2 signaling and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Enhanced epidermal growth factor, hepatocyte growth factor, and vascular endothelial growth factor expression in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

DEPTOR is an mTOR inhibitor frequently overexpressed in multiple myeloma cells and required for their survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberin binds p27 and negatively regulates its interaction with the SCF component Skp2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Effects of rapamycin on gene expression, morphology, and electrophysiological properties of rat hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Growing roles for the mTOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tuberous sclerosis and epilepsy: role of astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

TOR signaling in growth and metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Impaired astrocytic gap junction coupling and potassium buffering in a mouse model of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

TSC1/TSC2 and Rheb have different effects on TORC1 and TORC2 activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Rapamycin derivatives reduce mTORC2 signaling and inhibit AKT activation in AML.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Modulation of astrocyte glutamate transporters decreases seizures in a mouse model of Tuberous Sclerosis Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1085-X

10.1007/S00401-013-1085-X

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1016932383

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1 reference