Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex (Q45106443)

9 December 2017

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

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9 December 2017

Mark Nellist

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9 December 2017

Ozgur Sancak

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9 December 2017

Miriam A Goedbloed

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9 December 2017

Christan Rohe

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9 December 2017

Diana van Netten

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9 December 2017

Karin Mayer

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9 December 2017

Aimee Tucker-Williams

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9 December 2017

Ans M W van den Ouweland

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9 December 2017

Dicky J J Halley

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9 December 2017

1 January 2005

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European Journal of Human Genetics

9 December 2017

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9 December 2017

13

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9 December 2017

59-68

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9 December 2017

1

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201276

9 December 2017

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cites work

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Tuberous sclerosis: from tubers to mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

Rheb fills a GAP between TSC and TOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

TSC2: filling the GAP in the mTOR signaling pathway

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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/10.1038%2FSJ.EJHG.5201276

Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Amino acid substitution matrices from protein blocks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201276

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7 January 2021

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Identifiers

DOI

10.1038/SJ.EJHG.5201276

1 reference

Dimensions Publication ID

9 December 2017

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1 reference