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Search results 501 to 600 out of 686 for Tsc2

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Type Details Score
HT Experiment
E-MTAB-1487 | Transcription profiling by array of mice overexpressing a transgenic mutant human TDP-43 (hTDP-43) gene and wild-type mice to study TDP-43 mutations in relation to amyotrophic lateral sclerosis
 
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: ArrayExpress
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Publication
24444419 | -
First Author: Ha JY
Year: 2014
Journal: J Neurochem
Title: Tnfaip8 l1/Oxi-β binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model.
Volume: 129
Issue: 3
Pages: 527-38
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Publication
8806680 | -
First Author: Wienecke R
Year: 1996
Journal: Oncogene
Title: Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus.
Volume: 13
Issue: 5
Pages: 913-23
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Publication
18381890 | -
First Author: Hu J
Year: 2008
Journal: Genes Dev
Title: WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.
Volume: 22
Issue: 7
Pages: 866-71
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Allele
Tsc2<tm1Smoc> | MGI:7293014
Name: TSC complex subunit 2; targeted mutation 1, Shanghai Model Organisms Center
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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DO Term
DOID:0080325 | tuberous sclerosis 2
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Publication
21827857 | J:179850
First Author: Chévere-Torres I
Year: 2012
Journal: Neurobiol Dis
Title: Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin.
Volume: 45
Issue: 1
Pages: 156-64
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Publication
17077083 | -
First Author: Cao Y
Year: 2006
Journal: J Biol Chem
Title: Interaction of FoxO1 and TSC2 induces insulin resistance through activation of the mammalian target of rapamycin/p70 S6K pathway.
Volume: 281
Issue: 52
Pages: 40242-51
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Allele
Tg(CMV-Tsc2*)1Arbi | MGI:5049894
Name: transgene insertion 1, Jack Arbiser
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Pkd1)6Mtru | MGI:4437717
Name: transgene insertion 6, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Pkd1)26Mtru | MGI:4437718
Name: transgene insertion 26, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(Pkd1)18Mtru | MGI:4437719
Name: transgene insertion 18, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Strain
MGI:5049914 | C57BL/6-Tg(CMV-Tsc2*)1Arbi/KlanJ
Attribute String: transgenic, mutant strain, coisogenic
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Publication
15576369 | J:96943
First Author: Govindarajan B
Year: 2005
Journal: J Biol Chem
Title: Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain.
Volume: 280
Issue: 7
Pages: 5870-4
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Genotype
Genotype
Symbol: Tg(CMV-Tsc2*)1Arbi/?
Background: involves: C57BL/6
Zygosity: ot
Has Mutant Allele: true
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Protein
Q8BQP0
Organism: Mus musculus/domesticus
Length: 221  
Fragment?: true
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Protein Domain
IPR007483 | Hamartin
Type: Family
Description: This family includes the hamartin protein which is thought to function as a tumour suppressor. The hamartin protein interacts with the tuberin protein . Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterised by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation in either TSC1 or TSC2 tumour suppressor genes. TSC1 encodes a protein, hamartin, containing two coiled-coil regions, which have been shown to mediate binding to tuberin. The TSC2 gene codes for tuberin .
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Publication
19738049 | J:152687
First Author: Bhatia B
Year: 2009
Journal: Cancer Res
Title: Tuberous sclerosis complex suppression in cerebellar development and medulloblastoma: separate regulation of mammalian target of rapamycin activity and p27 Kip1 localization.
Volume: 69
Issue: 18
Pages: 7224-34
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Allele
Nthl1<tm1Yas> | MGI:2183467
Name: nth (endonuclease III)-like 1 (E.coli); targeted mutation 1, Akira Yasui
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Tsc2<tm2.1Djk> | MGI:4354599
Name: TSC complex subunit 2; targeted mutation 2.1, David J Kwiatkowski
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Allele
Tsc2<tm2.2Djk> | MGI:4354601
Name: TSC complex subunit 2; targeted mutation 2.2, David J Kwiatkowski
Allele Type: Targeted
Attribute String: Hypomorph
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Allele
Tg(Pkd1*)39Mtru | MGI:5519083
Name: transgene insertion 39, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Genotype
Genotype
Symbol: Tg(Pkd1)18Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(Pkd1)6Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(Pkd1)26Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
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Publication
12093749 | J:77767
First Author: Takao M
Year: 2002
Journal: EMBO J
Title: Novel nuclear and mitochondrial glycosylases revealed by disruption of the mouse Nth1 gene encoding an endonuclease III homolog for repair of thymine glycols.
Volume: 21
Issue: 13
Pages: 3486-93
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Strain
MGI:5560182 | STOCK Tsc2<tm2.1Djk>/Mmjax
Attribute String: targeted mutation, mutant stock
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Genotype
Genotype
Symbol: Nthl1/Nthl1
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tsc2/Tsc2
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tsc2/Tsc2
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tsc2/Tsc2<+>
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Protein Domain
IPR012918 | RTP801-like
Type: Family
Description: RTP801, also known as REDD1, is the protein product of a hypoxia-inducible factor 1 (HIF-1)- responsive gene and is thought to be involved in various cellular processes []. Both RTP801 and RTP801-like (REDD2) work downstream of AKT and upstream of TSC2 to inhibit mTOR, a serine/threonine kinase that plays an essential role in cell growth control []. Two members of this family expressed by Drosophila melanogaster, Scylla () and Charybde (), are designated as Hox targets [, ].
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Protein Domain
IPR003913 | Tuberin
Type: Family
Description: Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor genes. The disease ischaracterised by hamartomas in one or more organs (including brain, skin,heart and kidney) giving rise to a broad phenotypic spectrum (including seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC2 encodes tuberin, a putative GTPase activatingprotein for rap1 and rab5. The TSC1 gene was recently identified and codesfor hamartin, a novel protein with no significant similarity to tuberin orany other known vertebrate protein []. Hamartin and tuberin have been shown to associate physically in vivo, their interaction being mediated by predicted coiled-coil domains. It is thought that hamartin and tuberin function in the same complex, rather than in separate pathways.Moreover, because oligomerisation of the hamartin C-terminal coiled coildomain is inhibited by the presence of tuberin, it is possible that tuberinacts as a chaperone, preventing hamartin self-aggregation [].Tuberin is a widely expressed 1784-amino-acid protein. Expression of the wild-type gene in TSC2 mutant tumour cells inhibits proliferation andtumorigenicity. This "suppressor"activity is encoded by a functionaldomain in the C terminus that shares similarity with the GTPase activatingprotein Rap1GAP []. It is thought that tuberin functions as a Rab5GAP in vivo to negatively regulate Rab5-GTP activity in endocytosis []. It also acts as a GTPase-activating protein (GAP) for the small GTPase RheB, a direct activator of the protein kinase activity of mTORC1 [, ].
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Genotype
Genotype
Symbol: Tg(Pkd1*)39Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
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Publication
9233772 | -
First Author: Rosa JL
Year: 1997
Journal: Oncogene
Title: A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70.
Volume: 15
Issue: 1
Pages: 1-6
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Publication
8861955 | -
First Author: Rosa JL
Year: 1996
Journal: EMBO J
Title: p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins.
Volume: 15
Issue: 16
Pages: 4262-73
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Publication
25746226 | -
First Author: Bachiller S
Year: 2015
Journal: Cell Mol Life Sci
Title: The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction.
Volume: 72
Issue: 15
Pages: 2961-71
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Publication
27147983 | -
 
First Author: Ruiz R
Year: 2016
Journal: Front Neuroanat
Title: HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study.
Volume: 10
Pages: 42
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Publication
28323226 | -
First Author: Utine GE
Year: 2017
Journal: Eur J Med Genet
Title: HERC1 mutations in idiopathic intellectual disability.
Volume: 60
Issue: 5
Pages: 279-283
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Publication
27108999 | -
First Author: Aggarwal S
Year: 2016
Journal: Am J Med Genet A
Title: A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Volume: 170
Issue: 7
Pages: 1868-73
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Publication
15728574 | -
First Author: Yu Y
Year: 2005
Journal: J Biol Chem
Title: Structural basis for the unique biological function of small GTPase RHEB.
Volume: 280
Issue: 17
Pages: 17093-100
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Publication
15854902 | -
First Author: Long X
Year: 2005
Journal: Curr Biol
Title: Rheb binds and regulates the mTOR kinase.
Volume: 15
Issue: 8
Pages: 702-13
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Publication
16098514 | -
First Author: Tee AR
Year: 2005
Journal: FEBS Lett
Title: Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1.
Volume: 579
Issue: 21
Pages: 4763-8
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Publication
29104218 | -
 
First Author: Tatebe H
Year: 2017
Journal: Biomolecules
Title: Evolutionary Conservation of the Components in the TOR Signaling Pathways.
Volume: 7
Issue: 4
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Protein Domain
IPR038281 | RTP801-like_C_sf
Type: Homologous_superfamily
Description: This superfamily represents the C-terminal domain of RTP801 (also known as REDD1), the protein product of a hypoxia-inducible factor 1 (HIF-1)- responsive gene []. It is thought to be involved in various cellular processes []. Both RTP801 and RTP801-like (REDD2) work downstream of AKT and upstream of TSC2 to inhibit mTOR, a serine/threonine kinase that plays an essential role in cell growth control []. Overexpression of RTP801 causes the apoptosis- resistant phenotype in cycling cells, and apoptosis sensitivity in growth arrested cells []. Two members of this superfamily expressed by Drosophila melanogaster, Scylla () and Charybde (), are designated as Hox targets [, ].
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Protein Domain
IPR037586 | RHEB
Type: Family
Description: Rheb is a Ras-like small GTPase essential for TORC1 activity in mammals []. Rheb activates the protein kinase activity of mTORC1 (rapamycin), and in turn stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling [, , ]. Rheb alternates between an inactive form bound to GDP and an active form bound to GTP. It is inactivated by TSC1-TSC2 via the GTPase activating protein (GAP) domain of TSC2 []. The mechanism of action of Rheb has been determined from the tertiary structure [].
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Protein Domain
IPR035768 | SPRY_HERC1
Type: Domain
Description: This SPRY domain is found in the HERC1, a large protein related to chromosome condensation regulator RCC1. It is widely expressed in many tissues, playing an important role in intracellular membrane trafficking in the cytoplasm as well as Golgi apparatus [, ]. It is both a ubiquitin-protein ligase and a guanine nucleotide exchange factor for ARF and Rab family GTPases. Like other HERC proteins, HERC1 also interacts with tuberous sclerosis 2 (TSC2, tuberin), which suppresses cell growth, and results in the destabilization of TSC2 []. HERC1 is essential for neurotransmitter release and neuronal activity [, ]. Mutations in HERC1 lead to syndromic intellectual disability [, ].
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HT Experiment
GSE249634 | Hyperactive mTORC1 in Lung Mesenchyme Induces Endothelial Cell Dysfunction and Pulmonary Vascular Remodeling
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Publication
11884613 | J:75451
First Author: Shoshani T
Year: 2002
Journal: Mol Cell Biol
Title: Identification of a novel hypoxia-inducible factor 1-responsive gene, RTP801, involved in apoptosis.
Volume: 22
Issue: 7
Pages: 2283-93
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Protein
Q8VHZ5
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: false
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Protein
Q9D3F7
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
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Protein
Q9EP53
Organism: Mus musculus/domesticus
Length: 1161  
Fragment?: false
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Protein
B2RVG4
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: false
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Protein
B7ZNP9
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
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Protein
F2Z3X2
Organism: Mus musculus/domesticus
Length: 459  
Fragment?: false
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Protein
F2Z3W0
Organism: Mus musculus/domesticus
Length: 368  
Fragment?: false
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Protein
E9Q253
Organism: Mus musculus/domesticus
Length: 100  
Fragment?: true
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Publication
15632201 | -
First Author: Corradetti MN
Year: 2005
Journal: J Biol Chem
Title: The stress-inducted proteins RTP801 and RTP801L are negative regulators of the mammalian target of rapamycin pathway.
Volume: 280
Issue: 11
Pages: 9769-72
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Publication
16423342 | -
First Author: Scuderi A
Year: 2006
Journal: Dev Biol
Title: scylla and charybde, homologues of the human apoptotic gene RTP801, are required for head involution in Drosophila.
Volume: 291
Issue: 1
Pages: 110-22
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Publication
12271141 | -
First Author: Tee AR
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
Volume: 99
Issue: 21
Pages: 13571-6
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Publication
23439951 | J:198147
First Author: Kurbegovic A
Year: 2013
Journal: Hum Mol Genet
Title: Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.
Volume: 22
Issue: 12
Pages: 2361-75
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Publication
27488998 | J:281786
First Author: Kurbegovic A
Year: 2016
Journal: Am J Physiol Renal Physiol
Title: Acute kidney injury induces hallmarks of polycystic kidney disease.
Volume: 311
Issue: 4
Pages: F740-F751
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Genotype
Genotype
Symbol: Pkd1/Pkd1<+> Tg(Pkd1*)39Mtru/?
Background: involves: 129/Sv * C57BL/6J * CBA/J * SJL
Zygosity: cx
Has Mutant Allele: true
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Publication
21439266 | J:171923
First Author: Uddin MN
Year: 2011
Journal: Biochem Biophys Res Commun
Title: Gadd34 induces autophagy through the suppression of the mTOR pathway during starvation.
Volume: 407
Issue: 4
Pages: 692-8
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Publication
8921388 | J:36020
First Author: Van Raay TJ
Year: 1996
Journal: Genomics
Title: A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal dominant polycystic kidney disease gene region.
Volume: 37
Issue: 2
Pages: 172-6
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Publication
16169463 | J:103552
First Author: Hay N
Year: 2005
Journal: Cancer Cell
Title: The Akt-mTOR tango and its relevance to cancer.
Volume: 8
Issue: 3
Pages: 179-83
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Publication
20466002 | J:161318
First Author: Arakawa-Takeuchi S
Year: 2010
Journal: FEBS Lett
Title: Mammalian target of rapamycin complex 1 signaling opposes the effects of anchorage loss, leading to activation of Cdk4 and Cdc6 stabilization.
Volume: 584
Issue: 13
Pages: 2779-85
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Gene
3458 | IFNG
Type: gene
Organism: human
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Publication
28814601 | J:251134
First Author: Sowell RT
Year: 2017
Journal: J Immunol
Title: IL-15 Complexes Induce Migration of Resting Memory CD8 T Cells into Mucosal Tissues.
Volume: 199
Issue: 7
Pages: 2536-2546
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Publication
16765995 | J:118080
First Author: Larsen E
Year: 2007
Journal: Mutat Res
Title: Organ and cell specificity of base excision repair mutants in mice.
Volume: 614
Issue: 1-2
Pages: 56-68
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Publication
17450122 | J:122765
First Author: Kovtun IV
Year: 2007
Journal: Nature
Title: OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells.
Volume: 447
Issue: 7143
Pages: 447-52
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Publication
20053665 | J:157952
First Author: Kurbegovic A
Year: 2010
Journal: Hum Mol Genet
Title: Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes.
Volume: 19
Issue: 7
Pages: 1174-89
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Publication
18439900 | J:136666
First Author: Gwinn DM
Year: 2008
Journal: Mol Cell
Title: AMPK phosphorylation of raptor mediates a metabolic checkpoint.
Volume: 30
Issue: 2
Pages: 214-26
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Publication
29127155 | J:259136
First Author: Woodford MR
Year: 2017
Journal: EMBO J
Title: Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.
Volume: 36
Issue: 24
Pages: 3650-3665
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Publication
17141160 | J:137592
First Author: Guertin DA
Year: 2006
Journal: Dev Cell
Title: Ablation in mice of the mTORC components raptor, rictor, or mLST8 reveals that mTORC2 is required for signaling to Akt-FOXO and PKCalpha, but not S6K1.
Volume: 11
Issue: 6
Pages: 859-71
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Publication
23582324 | J:201276
First Author: Betschinger J
Year: 2013
Journal: Cell
Title: Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3.
Volume: 153
Issue: 2
Pages: 335-47
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Publication
16962653 | J:125618
First Author: Jacinto E
Year: 2006
Journal: Cell
Title: SIN1/MIP1 maintains rictor-mTOR complex integrity and regulates Akt phosphorylation and substrate specificity.
Volume: 127
Issue: 1
Pages: 125-37
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Publication
11011112 | J:70301
First Author: Majima S
Year: 2000
Journal: Jpn J Cancer Res
Title: A novel gene "Niban" upregulated in renal carcinogenesis: cloning by the cDNA-amplified fragment length polymorphism approach.
Volume: 91
Issue: 9
Pages: 869-74
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Publication
16904612 | J:112705
First Author: Sodhi A
Year: 2006
Journal: Cancer Cell
Title: The TSC2/mTOR pathway drives endothelial cell transformation induced by the Kaposi's sarcoma-associated herpesvirus G protein-coupled receptor.
Volume: 10
Issue: 2
Pages: 133-43
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Publication
33215753 | J:302301
First Author: Ko CJ
Year: 2021
Journal: EMBO J
Title: The E3 ubiquitin ligase Peli1 regulates the metabolic actions of mTORC1 to suppress antitumor T cell responses.
Volume: 40
Issue: 2
Pages: e104532
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Publication
21674478 | J:176815
First Author: Benhamron S
Year: 2011
Journal: Eur J Immunol
Title: Direct activation of mTOR in B lymphocytes confers impairment in B-cell maturation andloss of marginal zone B cells.
Volume: 41
Issue: 8
Pages: 2390-6
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Publication
33271062 | J:302995
First Author: Najafov A
Year: 2021
Journal: Mol Cell
Title: RIPK1 Promotes Energy Sensing by the mTORC1 Pathway.
Volume: 81
Issue: 2
Pages: 370-385.e7
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Publication
19356717 | J:148167
First Author: Mori H
Year: 2009
Journal: Cell Metab
Title: Critical role for hypothalamic mTOR activity in energy balance.
Volume: 9
Issue: 4
Pages: 362-74
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Publication
17522300 | J:121858
First Author: Meikle L
Year: 2007
Journal: J Neurosci
Title: A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival.
Volume: 27
Issue: 21
Pages: 5546-58
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Publication
18664580 | J:139950
First Author: Mills JR
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: mTORC1 promotes survival through translational control of Mcl-1.
Volume: 105
Issue: 31
Pages: 10853-8
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Publication
29133867 | J:255876
First Author: Gonçalves AF
Year: 2017
Journal: Nat Commun
Title: Evidence of renal angiomyolipoma neoplastic stem cells arising from renal epithelial cells.
Volume: 8
Issue: 1
Pages: 1466
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Publication
32043969 | J:290269
   
First Author: Garg A
Year: 2020
Journal: Elife
Title: Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.
Volume: 9
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Publication
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