The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners.

PubWeight™: 1.45‹?› | Rank: Top 5%

🔗 View Article (PMID 18291711)

Published in Mutat Res on January 12, 2008

Authors

Margit Rosner1, Michaela Hanneder, Nicol Siegel, Alessandro Valli, Markus Hengstschläger

Author Affiliations

1: Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, Austria.

Articles citing this

The tuberous sclerosis complex. Ann N Y Acad Sci (2010) 2.51

TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell (2012) 2.22

Glycogen synthase kinase-3 (GSK3): regulation, actions, and diseases. Pharmacol Ther (2014) 1.77

Sustained effects of sirolimus on lung function and cystic lung lesions in lymphangioleiomyomatosis. Am J Respir Crit Care Med (2014) 1.48

TSC1/TSC2 signaling in the CNS. FEBS Lett (2011) 1.31

mTORC1 and mTORC2 selectively regulate CD8⁺ T cell differentiation. J Clin Invest (2015) 1.18

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors. Brain Pathol (2009) 1.12

Functional interaction of mammalian target of rapamycin complexes in regulating mammalian cell size and cell cycle. Hum Mol Genet (2009) 1.11

Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics (2008) 1.08

Mammalian target of rapamycin regulates Nox4-mediated podocyte depletion in diabetic renal injury. Diabetes (2013) 1.08

Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function. Proc Natl Acad Sci U S A (2009) 1.01

Efficient siRNA-mediated prolonged gene silencing in human amniotic fluid stem cells. Nat Protoc (2010) 1.00

Identification of novel androgen-regulated pathways and mRNA isoforms through genome-wide exon-specific profiling of the LNCaP transcriptome. PLoS One (2011) 1.00

Lysosomal recruitment of TSC2 is a universal response to cellular stress. Nat Commun (2016) 1.00

Activation of protein kinase C-ζ in pancreatic β-cells in vivo improves glucose tolerance and induces β-cell expansion via mTOR activation. Diabetes (2011) 0.99

Emerging pharmacotherapies for neurodevelopmental disorders. J Dev Behav Pediatr (2010) 0.99

Regulation of REDD1 by insulin-like growth factor-I in skeletal muscle and myotubes. J Cell Biochem (2009) 0.97

Rhodiola rosea extracts and salidroside decrease the growth of bladder cancer cell lines via inhibition of the mTOR pathway and induction of autophagy. Mol Carcinog (2011) 0.97

Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis. Clin Epidemiol (2015) 0.95

Frontier of epilepsy research - mTOR signaling pathway. Exp Mol Med (2011) 0.95

Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. Mol Cell Proteomics (2010) 0.92

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet (2009) 0.92

PKR, the double stranded RNA-dependent protein kinase as a critical target in Alzheimer's disease. J Cell Mol Med (2009) 0.90

Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders. Neural Plast (2012) 0.90

α-methyl-L-tryptophan: mechanisms for tracer localization of epileptogenic brain regions. Biomark Med (2011) 0.87

A novel androgen-regulated isoform of the TSC2 tumour suppressor gene increases cell proliferation. Oncotarget (2014) 0.86

Breast carcinoma cells in primary tumors and effusions have different gene array profiles. J Oncol (2009) 0.83

Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex. PLoS One (2014) 0.80

Gene expression profiling of flaxseed in mouse lung tissues-modulation of toxicologically relevant genes. BMC Complement Altern Med (2012) 0.80

Conditional and domain-specific inactivation of the Tsc2 gene in neural progenitor cells. Genesis (2013) 0.80

Exploiting molecular biology for diagnosis and targeted management of pediatric low-grade gliomas. Future Oncol (2016) 0.79

Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin. Nucleic Acids Res (2014) 0.79

Management of lymphangioleiomyomatosis. F1000Prime Rep (2014) 0.79

Optimizing treatments for lymphangioleiomyomatosis. Expert Rev Respir Med (2012) 0.79

RB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfism. J Biol Chem (2011) 0.78

Potential for treatment of severe autism in tuberous sclerosis complex. World J Clin Pediatr (2013) 0.78

Do we have a cure for tuberous sclerosis complex? Epilepsy Curr (2009) 0.78

PLK1, A Potential Target for Cancer Therapy. Transl Oncol (2016) 0.77

New insights into the pathophysiology of the tuberous sclerosis complex: Crosstalk of mTOR- and hippo-YAP pathways in cell growth. Rare Dis (2015) 0.77

Pharmacological inhibition of Polo-like kinase 1 (PLK1) by BI-2536 decreases the viability and survival of hamartin and tuberin deficient cells via induction of apoptosis and attenuation of autophagy. Cell Cycle (2015) 0.77

TSC2 mediates hyperosmotic stress-induced inactivation of mTORC1. Sci Rep (2015) 0.77

Retrospective review of combined sirolimus and simvastatin therapy in lymphangioleiomyomatosis. Chest (2015) 0.76

Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7). J Biol Chem (2016) 0.76

Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2. Neuroimage Clin (2014) 0.75

Lymphangioleiomyomatosis. Atlas Genet Cytogenet Oncol Haematol (2015) 0.75

EPIDEMIOLOGY, PATHOGENESIS and DIAGNOSIS of LYMPHANGIOLEIOMYOMATOSIS. Expert Opin Orphan Drugs (2016) 0.75

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases. Genes (Basel) (2017) 0.75

Importance of tuberin in carcinogenesis. Oncol Lett (2017) 0.75

Articles by these authors

The TSC-mTOR signaling pathway regulates the innate inflammatory response. Immunity (2008) 4.44

Oct-4-expressing cells in human amniotic fluid: a new source for stem cell research? Hum Reprod (2003) 2.09

In vitro cell migration and invasion assays. Mutat Res (2012) 1.91

Cytoplasmic and nuclear distribution of the protein complexes mTORC1 and mTORC2: rapamycin triggers dephosphorylation and delocalization of the mTORC2 components rictor and sin1. Hum Mol Genet (2008) 1.85

Selective modulation of Hedgehog/GLI target gene expression by epidermal growth factor signaling in human keratinocytes. Mol Cell Biol (2006) 1.72

The relevance of the individual genetic background for the toxicokinetics of two significant neurodevelopmental toxicants: mercury and lead. Mutat Res (2010) 1.36

Brca1 regulates in vitro differentiation of mammary epithelial cells. Oncogene (2002) 1.35

The mTOR pathway and its role in human genetic diseases. Mutat Res (2008) 1.33

Contribution of human amniotic fluid stem cells to renal tissue formation depends on mTOR. Hum Mol Genet (2010) 1.11

Neurogenic cells in human amniotic fluid. Am J Obstet Gynecol (2004) 1.11

Functional interaction of mammalian target of rapamycin complexes in regulating mammalian cell size and cell cycle. Hum Mol Genet (2009) 1.11

The role of the placenta in fetal exposure to heavy metals. Wien Med Wochenschr (2012) 1.07

Cell size regulation by the human TSC tumor suppressor proteins depends on PI3K and FKBP38. Oncogene (2003) 1.06

Knockout of the murine cysteine dioxygenase gene results in severe impairment in ability to synthesize taurine and an increased catabolism of cysteine to hydrogen sulfide. Am J Physiol Endocrinol Metab (2011) 1.06

Inhibition of mTOR blocks the anti-inflammatory effects of glucocorticoids in myeloid immune cells. Blood (2011) 1.06

Merging high-quality biochemical fractionation with a refined flow cytometry approach to monitor nucleocytoplasmic protein expression throughout the unperturbed mammalian cell cycle. Nat Protoc (2013) 1.05

p27Kip1 localization depends on the tumor suppressor protein tuberin. Hum Mol Genet (2007) 1.02

The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27. Mutat Res (2006) 1.02

Activation of ectopic Oct-4 and Rex-1 promoters in human amniotic fluid cells. Int J Mol Med (2005) 1.01

Efficient siRNA-mediated prolonged gene silencing in human amniotic fluid stem cells. Nat Protoc (2010) 1.00

Stem cells in amniotic fluid as new tools to study human genetic diseases. Stem Cell Rev (2007) 0.95

Modification of the oxidative stress biomarker AOPP assay: application in uremic samples. Clin Chim Acta (2008) 0.95

A BAC library of the East African haplochromine cichlid fish Astatotilapia burtoni. J Exp Zool B Mol Dev Evol (2006) 0.95

Human amniotic fluid stem cells as a model for functional studies of genes involved in human genetic diseases or oncogenesis. Oncotarget (2011) 0.92

The cysteine dioxgenase knockout mouse: altered cysteine metabolism in nonhepatic tissues leads to excess H2S/HS(-) production and evidence of pancreatic and lung toxicity. Antioxid Redox Signal (2013) 0.91

Tuberin binds p27 and negatively regulates its interaction with the SCF component Skp2. J Biol Chem (2004) 0.89

Short 42 degrees C heat shock induces phosphorylation and degradation of Cdc25A which depends on p38MAPK, Chk2 and 14.3.3. Hum Mol Genet (2009) 0.89

Detection of cytoplasmic and nuclear functions of mTOR by fractionation. Methods Mol Biol (2012) 0.89

The first trimester human trophoblast cell line ACH-3P: a novel tool to study autocrine/paracrine regulatory loops of human trophoblast subpopulations--TNF-alpha stimulates MMP15 expression. BMC Dev Biol (2007) 0.89

Induction of mesenchymal/epithelial marker expression in human amniotic fluid stem cells. Reprod Biomed Online (2009) 0.88

Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation. Hum Mol Genet (2011) 0.88

p38α senses environmental stress to control innate immune responses via mechanistic target of rapamycin. J Immunol (2013) 0.87

FAS (CD95) mutations are rare in gastric MALT lymphoma but occur more frequently in primary gastric diffuse large B-cell lymphoma. Am J Pathol (2004) 0.85

Tuberin--a new molecular target in Alzheimer's disease? Neurochem Res (2005) 0.85

Immune responses of macrophages and dendritic cells regulated by mTOR signalling. Biochem Soc Trans (2013) 0.85

mTOR protein localization is cell cycle-regulated. Cell Cycle (2011) 0.84

The decision on the "optimal" human pluripotent stem cell. Stem Cells Transl Med (2014) 0.83

Differentiation of neuroblastoma cell line N1E-115 involves several signaling cascades. Neurochem Res (2005) 0.83

A BAC library for the goldfish Carassius auratus auratus (Cyprinidae, Cypriniformes). J Exp Zool B Mol Dev Evol (2006) 0.83

The kidney is the major site of S-adenosylhomocysteine disposal in humans. Kidney Int (2009) 0.83

Variations of protein levels in human amniotic fluid stem cells CD117/2 over passages 5-25. J Proteome Res (2009) 0.82

Amniotic fluid stem cells and fetal cell microchimerism. Trends Mol Med (2013) 0.82

Expression of mTOR pathway proteins in human amniotic fluid stem cells. Int J Mol Med (2009) 0.81

New insights into the role of the tuberous sclerosis genes in leukemia. Leuk Res (2009) 0.81

Proteomic determination of metabolic enzymes of the amnion cell: basis for a possible diagnostic tool? Proteomics (2004) 0.81

Chondrogenic differentiation of amniotic fluid stem cells and their potential for regenerative therapy. Stem Cell Rev (2012) 0.81

[The first preimplantation diagnosis in Austria]. Wien Klin Wochenschr (2005) 0.81

Causes of hyperhomocysteinemia in patients with chronic kidney diseases. Semin Nephrol (2006) 0.80

Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome. J Reprod Med (2003) 0.80

Effects of uremia and inflammation on growth hormone resistance in patients with chronic kidney diseases. Kidney Int (2008) 0.80

Applications of amniotic membrane and fluid in stem cell biology and regenerative medicine. Stem Cells Int (2012) 0.80

Renal differentiation of amniotic fluid stem cells: perspectives for clinical application and for studies on specific human genetic diseases. Eur J Clin Invest (2011) 0.80

Bach2 is involved in neuronal differentiation of N1E-115 neuroblastoma cells. Exp Cell Res (2006) 0.80

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease. Audiol Neurootol (2014) 0.79

Proteins involved in neuronal differentiation of neuroblastoma cell line N1E-115. Electrophoresis (2007) 0.79

Targeting epigenetic readers in cancer. N Engl J Med (2012) 0.79

Genetic factors in assisted reproduction. Wien Klin Wochenschr (2003) 0.78

Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation. Asian J Androl (2012) 0.78

Blocking mTORC1 activity by rapamycin leads to impairment of spatial memory retrieval but not acquisition in C57BL/6J mice. Behav Brain Res (2012) 0.78

Tuberin and p27 expression in breast cancer patients with or without BRCA germline mutations. J Cancer Res Clin Oncol (2013) 0.78

Evidence for separable functions of tuberous sclerosis gene products in mammalian cell cycle regulation. J Neuropathol Exp Neurol (2002) 0.77

Kidney and splanchnic handling of interleukin-6 in humans. Cytokine (2007) 0.77

Clinical impact of studying epithelial-mesenchymal plasticity in pluripotent stem cells. Eur J Clin Invest (2015) 0.77

The tuberous sclerosis genes, TSC1 and TSC2, trigger different gene expression responses. Int J Oncol (2005) 0.77

Phosphorylation of nuclear and cytoplasmic pools of ribosomal protein S6 during cell cycle progression. Amino Acids (2012) 0.77

Hsp90 stabilizes Cdc25A and counteracts heat shock-mediated Cdc25A degradation and cell-cycle attenuation in pancreatic carcinoma cells. Hum Mol Genet (2012) 0.76

Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction. Wien Klin Wochenschr (2003) 0.76

Spatial consequences of blocking mTOR/S6K: relevance for therapy. Cell Cycle (2012) 0.76

Lysis gradient centrifugation: a flexible method for the isolation of nuclei from primary cells. Methods Mol Biol (2015) 0.76

Amniotic fluid stem cells: future perspectives. Stem Cells Int (2012) 0.76

Amniotic stem cells: potential in regenerative medicine. Stem Cells Int (2012) 0.75

Amniotic fluid stem cells to study mTOR signaling in differentiation. Organogenesis (2012) 0.75

Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization. PLoS One (2015) 0.75

Mitosis-dependent protein expression in neuroblastoma cell line N1E-115. J Proteome Res (2008) 0.75

Differentiation-dependent expression of hypothetical proteins in the neuroblastoma cell line N1E-115. Proteins (2006) 0.75

Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency. Gynecol Obstet Invest (2004) 0.75

Effects of gigapascal level pressure on protein structure and function. J Phys Chem B (2012) 0.75

Brca1 and differentiation. Mutat Res (2002) 0.75

Intercellular protein expression variability as a feature of stem cell pluripotency. Amino Acids (2013) 0.75