Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches. (Q38994919)

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26 March 2020

review article

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title

Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches (English)

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26 March 2020

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2

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26 March 2020

Jacek Jaworski

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26 March 2020

author name string

Katarzyna Switon

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26 March 2020

Aleksandra Janusz-Kaminska

3

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Justyna Zmorzynska

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publication date

31 October 2016

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26 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27797139 AND SRC:MED&resulttype=core&format=json

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volume

68

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issue

12

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26 March 2020

page(s)

955-962

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The tuberous sclerosis complex

26 March 2020

cites work

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy

21 January 2018

1 reference

Non‐canonical functions of the tuberous sclerosis complex‐Rheb signalling axis

21 January 2018

1 reference

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.

21 January 2018

1 reference

Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex

21 January 2018

1 reference

Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study

21 January 2018

1 reference

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

21 January 2018

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Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).

21 January 2018

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Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

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The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

21 January 2018

1 reference

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

21 January 2018

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TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

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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

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

21 January 2018

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IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway

21 January 2018

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TSC2 mediates cellular energy response to control cell growth and survival

21 January 2018

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Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome

21 January 2018

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mTOR signaling in growth control and disease

21 January 2018

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Beyond control of protein translation: what we have learned about the non-canonical regulation and function of mammalian target of rapamycin (mTOR).

21 January 2018

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mTOR complex 2 signaling and functions

21 January 2018

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The TSC1-TSC2 complex is required for proper activation of mTOR complex 2

21 January 2018

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21 January 2018

The neurology of mTOR

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

21 January 2018

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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

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Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner

21 January 2018

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Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

21 January 2018

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

21 January 2018

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Dose-level response rates of mTor inhibition in tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA).

21 January 2018

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TSC2 regulates VEGF through mTOR-dependent and -independent pathways

21 January 2018

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Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells

21 January 2018

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Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin

21 January 2018

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PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

21 January 2018

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Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis

21 January 2018

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Autistic regression associated with seizure onset in an infant with tuberous sclerosis

21 January 2018

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Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

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Topical Use of Mammalian Target of Rapamycin (mTOR) Inhibitors in Tuberous Sclerosis Complex-A Comprehensive Review of the Literature

21 January 2018

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

21 January 2018

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Everolimus for subependymal giant cell astrocytoma: 5-year final analysis

21 January 2018

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Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

21 January 2018

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Management of side effects of mTOR inhibitors in tuberous sclerosis patients

21 January 2018

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Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations

21 January 2018

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Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

21 January 2018

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Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.

21 January 2018

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Vigabatrin inhibits seizures and mTOR pathway activation in a mouse model of tuberous sclerosis complex

21 January 2018

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The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway

21 January 2018

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Resveratrol as a novel treatment for diseases with mTOR pathway hyperactivation

21 January 2018

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Resveratrol prevents rapamycin-induced upregulation of autophagy and selectively induces apoptosis in TSC2-deficient cells

21 January 2018

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Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells

21 January 2018

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Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide

21 January 2018

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Tuberous sclerosis complex 2 loss increases lysophosphatidylcholine synthesis in lymphangioleiomyomatosis.

21 January 2018

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Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex

21 January 2018

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Synthetic lethality of combined glutaminase and Hsp90 inhibition in mTORC1-driven tumor cells

21 January 2018

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High-throughput drug screen identifies chelerythrine as a selective inducer of death in a TSC2-null setting.

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/IUB.1579

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27797139 AND SRC:MED&resulttype=core&format=json

26 March 2020

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