Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways (Q34562010)

3 August 2017

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title

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways (English)

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3 August 2017

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David J Kwiatkowski

1

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PubMed ID

16244323

3 August 2017

Brendan D Manning

series ordinal

2

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3 August 2017

1 October 2005

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3 August 2017

Human Molecular Genetics

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3 August 2017

14 Spec No. 2

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3 August 2017

R251-8

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Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

3 August 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Molecular pathogenesis of tuber formation in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Brain abnormalities in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Behavioral and cognitive aspects of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Prevalence and Clinical Characteristics of Lymphangioleiomyomatosis (LAM) in Patients with Tuberous Sclerosis Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Complete inactivation of the TSC2 gene leads to formation of hamartomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Tuberous sclerosis complex: from Drosophila to human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

TSC1-2 tumour suppressor and regulation of mTOR signalling: linking cell growth and proliferation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

New roles for the LKB1-->AMPK pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Dysregulation of the TSC-mTOR pathway in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Signaling by target of rapamycin proteins in cell growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Balancing Akt with S6K: implications for both metabolic diseases and tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

3-Phosphoinositide-dependent protein kinase-1 (PDK1): structural and functional homology with the Drosophila DSTPK61 kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

PI 3-kinase, Akt and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

United at last: the tuberous sclerosis complex gene products connect the phosphoinositide 3-kinase/Akt pathway to mammalian target of rapamycin (mTOR) signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb promotes cell growth as a component of the insulin/TOR signalling network

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb is an essential regulator of S6K in controlling cell growth in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Akt regulates growth by directly phosphorylating Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb is in a high activation state and inhibits B-Raf kinase in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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/10.1093%2FHMG%2FDDI260

Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The expanding TOR signaling network

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

mTOR, translational control and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Two TOR complexes, only one of which is rapamycin sensitive, have distinct roles in cell growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Rheb binds and regulates the mTOR kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Amino acid sufficiency and mTOR regulate p70 S6 kinase and eIF-4E BP1 through a common effector mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The tuberous sclerosis protein TSC2 is not required for the regulation of the mammalian target of rapamycin by amino acids and certain cellular stresses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

SKAR is a specific target of S6 kinase 1 in cell growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Phosphorylation of eucaryotic translation initiation factor 4B Ser422 is modulated by S6 kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Malignant transformation by a eukaryotic initiation factor subunit that binds to mRNA 5' cap

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Survival signalling by Akt and eIF4E in oncogenesis and cancer therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Complexes between the LKB1 tumor suppressor, STRAD alpha/beta and MO25 alpha/beta are upstream kinases in the AMP-activated protein kinase cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The tumor suppressor LKB1 kinase directly activates AMP-activated kinase and regulates apoptosis in response to energy stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

LKB1 is the upstream kinase in the AMP-activated protein kinase cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

TSC2 mediates cellular energy response to control cell growth and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The LKB1 tumor suppressor negatively regulates mTOR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The hypoxia-induced paralogs Scylla and Charybdis inhibit growth by down-regulating S6K activity upstream of TSC in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Inappropriate activation of the TSC/Rheb/mTOR/S6K cassette induces IRS1/2 depletion, insulin resistance, and cell survival deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Effects of rapamycin in the Eker rat model of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI260

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI260

1 reference

3 August 2017

1 reference

PubMed ID

16244323