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Search results 501 to 600 out of 668 for Tsc2

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Type Details Score
Allele
Name: transgene insertion 6, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Genotype
Symbol: Tg(CMV-Tsc2*)1Arbi/?
Background: involves: C57BL/6
Zygosity: ot
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 221  
Fragment?: true
Protein Domain
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 .
Allele
Name: TSC complex subunit 2; targeted mutation 2.2, David J Kwiatkowski
Allele Type: Targeted
Attribute String: Hypomorph
Allele
Name: TSC complex subunit 2; targeted mutation 2.1, David J Kwiatkowski
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
Allele
Name: nth (endonuclease III)-like 1 (E.coli); targeted mutation 1, Akira Yasui
Allele Type: Targeted
Attribute String: Null/knockout
Allele
Name: transgene insertion 39, Marie Trudel
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
Genotype
Symbol: Tg(Pkd1)18Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(Pkd1)6Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(Pkd1)26Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
Publication
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
Strain
Attribute String: targeted mutation, mutant stock
Publication
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
Genotype
Symbol: Nthl1/Nthl1
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Tsc2/Tsc2
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Tsc2/Tsc2
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Tsc2/Tsc2<+>
Background: involves: 129S4/SvJae * C57BL/6
Zygosity: ht
Has Mutant Allele: true
Protein Domain
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 [, ].
Protein Domain
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 [, ].
Genotype
Symbol: Tg(Pkd1*)39Mtru/?
Background: involves: C57BL/6J * CBA/J
Zygosity: ot
Has Mutant Allele: true
Publication
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
Publication
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
Publication
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
Publication  
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
Publication
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
Publication
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
Publication
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
Publication
First Author: Long X
Year: 2005
Journal: Curr Biol
Title: Rheb binds and regulates the mTOR kinase.
Volume: 15
Issue: 8
Pages: 702-13
Publication
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
Publication  
First Author: Tatebe H
Year: 2017
Journal: Biomolecules
Title: Evolutionary Conservation of the Components in the TOR Signaling Pathways.
Volume: 7
Issue: 4
Protein Domain
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 [, ].
Protein Domain
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 [].
Protein Domain
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 [, ].
Publication
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
Protein
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1161  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 193  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 229  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 459  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 368  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 100  
Fragment?: true
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Genotype
Symbol: Pkd1/Pkd1<+> Tg(Pkd1*)39Mtru/?
Background: involves: 129/Sv * C57BL/6J * CBA/J * SJL
Zygosity: cx
Has Mutant Allele: true
Publication
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
Publication
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
Publication
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
Publication
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
Gene
Type: gene
Organism: human
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication
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
Publication    
First Author: Garg A
Year: 2020
Journal: Elife
Title: Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.
Volume: 9
Publication
First Author: Karalis V
Year: 2022
Journal: Nat Commun
Title: Raptor downregulation rescues neuronal phenotypes in mouse models of Tuberous Sclerosis Complex.
Volume: 13
Issue: 1
Pages: 4665
Publication
First Author: Wu X
Year: 2022
Journal: Cell Rep
Title: Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex.
Volume: 40
Issue: 3
Pages: 111085
Publication  
First Author: Yamaguchi S
Year: 2021
Journal: Front Endocrinol (Lausanne)
Title: Adipocyte-Specific Inhibition of Mir221/222 Ameliorates Diet-Induced Obesity Through Targeting Ddit4.
Volume: 12
Pages: 750261
Publication
First Author: D'Gama AM
Year: 2017
Journal: Cell Rep
Title: Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
Volume: 21
Issue: 13
Pages: 3754-3766
Publication
First Author: Häusl AS
Year: 2022
Journal: Sci Adv
Title: Mediobasal hypothalamic FKBP51 acts as a molecular switch linking autophagy to whole-body metabolism.
Volume: 8
Issue: 10
Pages: eabi4797
Publication
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
Publication
First Author: Goel S
Year: 2016
Journal: Cancer Cell
Title: Overcoming Therapeutic Resistance in HER2-Positive Breast Cancers with CDK4/6 Inhibitors.
Volume: 29
Issue: 3
Pages: 255-69
Publication
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
Publication
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
Publication
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
Publication
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
Publication
First Author: Yeung RS
Year: 1994
Journal: Proc Natl Acad Sci U S A
Title: Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.
Volume: 91
Issue: 24
Pages: 11413-6
Publication
First Author: Kobayashi T
Year: 1995
Journal: Nat Genet
Title: A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer.
Volume: 9
Issue: 1
Pages: 70-4
Publication
First Author: Geist RT
Year: 1995
Journal: Cell Growth Differ
Title: The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord.
Volume: 6
Issue: 11
Pages: 1477-83
Publication
First Author: Kobayashi T
Year: 1997
Journal: Mamm Genome
Title: Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.
Volume: 8
Issue: 8
Pages: 554-8
Publication
First Author: Wan M
Year: 2006
Journal: FEBS Lett
Title: Muscle atrophy in transgenic mice expressing a human TSC1 transgene.
Volume: 580
Issue: 24
Pages: 5621-7
Publication
First Author: Faubert B
Year: 2015
Journal: Cancer Lett
Title: The AMP-activated protein kinase (AMPK) and cancer: many faces of a metabolic regulator.
Volume: 356
Issue: 2 Pt A
Pages: 165-70
Publication      
First Author: Bartolomé A
Year: 2017
Journal: Mol Cell Biol
Title: MTORC1 Regulates both General Autophagy and Mitophagy Induction after Oxidative Phosphorylation Uncoupling.
Publication  
First Author: Lozovaya N
Year: 2014
Journal: Nat Commun
Title: Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.
Volume: 5
Pages: 4563
Publication  
First Author: Byun JK
Year: 2019
Journal: EMBO Rep
Title: Oncogenic KRAS signaling activates mTORC1 through COUP-TFII-mediated lactate production.
Volume: 20
Issue: 6
Publication
First Author: Romero-Pozuelo J
Year: 2020
Journal: Cell Rep
Title: Cdk4 and Cdk6 Couple the Cell-Cycle Machinery to Cell Growth via mTORC1.
Volume: 31
Issue: 2
Pages: 107504
Protein
Organism: Mus musculus/domesticus
Length: 621  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1359  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1359  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1416  
Fragment?: true
Publication
First Author: Xiao GH
Year: 1997
Journal: J Biol Chem
Title: The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.
Volume: 272
Issue: 10
Pages: 6097-100
Publication
First Author: Kurbegovic A
Year: 2014
Journal: Mol Cell Biol
Title: Novel functional complexity of polycystin-1 by GPS cleavage in vivo: role in polycystic kidney disease.
Volume: 34
Issue: 17
Pages: 3341-53
Publication
First Author: Sofer A
Year: 2005
Journal: Mol Cell Biol
Title: Regulation of mTOR and cell growth in response to energy stress by REDD1.
Volume: 25
Issue: 14
Pages: 5834-45
Publication
First Author: Wei Z
Year: 2021
Journal: FASEB J
Title: Death-associated protein kinase 1 (DAPK1) controls CD8+ T cell activation, trafficking, and antitumor activity.
Volume: 35
Issue: 1
Pages: e21138
Publication
First Author: Britto FA
Year: 2014
Journal: Am J Physiol Endocrinol Metab
Title: REDD1 deletion prevents dexamethasone-induced skeletal muscle atrophy.
Volume: 307
Issue: 11
Pages: E983-93
Publication
First Author: Steiner JL
Year: 2015
Journal: Am J Physiol Endocrinol Metab
Title: Disruption of REDD1 gene ameliorates sepsis-induced decrease in mTORC1 signaling but has divergent effects on proteolytic signaling in skeletal muscle.
Volume: 309
Issue: 12
Pages: E981-94
Publication
First Author: Jones I
Year: 2015
Journal: Dis Model Mech
Title: A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development.
Volume: 8
Issue: 12
Pages: 1517-29