-
1
-
-
0027770784
-
Identification and characterisation of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium
-
European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell 75: 1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
2
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
DOI 10.1126/science.277.5327.805
-
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen LAJ et al. (1997) Identification of the tuberous sclerosis gene (TSC1) on chromosome 9q34. Science 277: 805-808. (Pubitemid 27366729)
-
(1997)
Science
, vol.277
, Issue.5327
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
Van Den, O.A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Sampson, J.R.25
Reeve, M.P.26
Richardson, P.27
Wilmer, F.28
Munro, C.29
Hawkins, T.L.30
Sepp, T.31
Ali, J.B.M.32
Ward, S.33
Green, A.J.34
Yates, J.R.W.35
Kwiatkowska, J.36
Henske, E.P.37
Short, M.P.38
Haines, J.H.39
Jozwiak, S.40
Kwiatkowski, D.J.41
more..
-
3
-
-
84884522817
-
Tuberous Sclerosis Complex diagnostic criteria update: Recommendations of the 2012 international TSC consensus conference
-
International TSC Consensus Group
-
Northrup H, Krueger DA, International TSC Consensus Group (2013) Tuberous Sclerosis Complex diagnostic criteria update: recommendations of the 2012 international TSC consensus conference. Ped Neurol 49: 243-254.
-
(2013)
Ped Neurol
, vol.49
, pp. 243-254
-
-
Northrup, H.1
Krueger, D.A.2
-
4
-
-
44449161481
-
The TSC1-TSC2 complex: A molecular switchboard controlling cell growth
-
DOI 10.1042/BJ20080281
-
Huang J, Manning BD (2008) The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J 412: 179-190. (Pubitemid 351758225)
-
(2008)
Biochemical Journal
, vol.412
, Issue.2
, pp. 179-190
-
-
Huang, J.1
Manning, B.D.2
-
5
-
-
84859778293
-
mTOR signaling in growth control and disease
-
Laplante M, Sabatini DM (2012) mTOR signaling in growth control and disease. Cell 149: 274-293.
-
(2012)
Cell
, vol.149
, pp. 274-293
-
-
Laplante, M.1
Sabatini, D.M.2
-
6
-
-
17844369428
-
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
-
DOI 10.1038/sj.onc.1204009
-
Benvenuto G, Li S, Brown SJ, Braverman R, Vass WC et al. (2000) The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19: 6306-6316. (Pubitemid 32641844)
-
(2000)
Oncogene
, vol.19
, Issue.54
, pp. 6306-6316
-
-
Benvenuto, G.1
Li, S.2
Brown, S.J.3
Braverman, R.4
Vass, W.C.5
Cheadle, J.P.6
Halley, D.J.J.7
Sampson, J.R.8
Wienecke, R.9
DeClue, J.E.10
-
7
-
-
33646111903
-
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning
-
Cai SL, Tee AR, Short JD, Bergeron JM, Kim J et al. (2006) Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J Cell Biol 173: 279-89.
-
(2006)
J Cell Biol
, vol.173
, pp. 279-289
-
-
Cai, S.L.1
Tee, A.R.2
Short, J.D.3
Bergeron, J.M.4
Kim, J.5
-
8
-
-
84885105969
-
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS
-
Zhang J, Kim J, Alexander A, Cai S, Tripathi DN et al. (2013) A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol 15: 1186-1196.
-
(2013)
Nat Cell Biol
, vol.15
, pp. 1186-1196
-
-
Zhang, J.1
Kim, J.2
Alexander, A.3
Cai, S.4
Tripathi, D.N.5
-
9
-
-
34547605613
-
IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway
-
Lee DF, Kuo HP, Chen CT, Hsu JM, Chou CK et al. (2007) IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway. Cell 130: 440-55.
-
(2007)
Cell
, vol.130
, pp. 440-455
-
-
Lee, D.F.1
Kuo, H.P.2
Chen, C.T.3
Hsu, J.M.4
Chou, C.K.5
-
10
-
-
0033544919
-
Characterization of the cytosolic Tuberin-Hamartin complex: Tuberin is a cytosolic chaperone for Hamartin
-
Nellist M, van Slegtenhorst MA, Goedbloed M, van den Ouweland AMW, Halley DJJ et al. (1999) Characterization of the cytosolic tuberin-hamartin complex: tuberin is a cytosolic chaperone for hamartin. J Biol Chem 274: 35647-35652. (Pubitemid 129512864)
-
(1999)
Journal of Biological Chemistry
, vol.274
, Issue.50
, pp. 35647-35652
-
-
Nellist, M.1
Van Slegtenhorst, M.A.2
Goedbloed, M.3
Van Den, O.A.M.W.4
Halley, D.J.J.5
Van Der, S.P.6
-
11
-
-
77954959759
-
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
-
Hoogeveen-Westerveld M, Exalto C, Maat-Kievit A, van den Ouweland A, Halley D et al. (2010) Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochim Biophys Acta 1802: 774-781.
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 774-781
-
-
Hoogeveen-Westerveld, M.1
Exalto, C.2
Maat-Kievit, A.3
Van Den Ouweland, A.4
Halley, D.5
-
12
-
-
84880366057
-
Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations
-
doi:10.1038/ncomms3135
-
Sun W, Zhu YJ, Wang Z, Zhong Q, Gao F et al. (2013) Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations. Nature Commun 4: 2135 (doi:10.1038/ncomms3135).
-
(2013)
Nature Commun
, vol.4
, pp. 2135
-
-
Sun, W.1
Zhu, Y.J.2
Wang, Z.3
Zhong, Q.4
Gao, F.5
-
13
-
-
79952758204
-
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with tuberous sclerosis complex
-
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R et al. (2011) Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with tuberous sclerosis complex. Hum Mutat 32: 424-435.
-
(2011)
Hum Mutat
, vol.32
, pp. 424-435
-
-
Hoogeveen-Westerveld, M.1
Wentink, M.2
Van Den Heuvel, D.3
Mozaffari, M.4
Ekong, R.5
-
14
-
-
84857064426
-
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
-
Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD et al. (2012) Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 33: 476-479.
-
(2012)
Hum Mutat
, vol.33
, pp. 476-479
-
-
Hoogeveen-Westerveld, M.1
Ekong, R.2
Povey, S.3
Karbassi, I.4
Batish, S.D.5
-
15
-
-
43149101490
-
The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
-
Rosner M, Hanneder M, Siegel N, Valli A, Hengstschlager M (2008) The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutat Res 658: 234-246.
-
(2008)
Mutat Res
, vol.658
, pp. 234-246
-
-
Rosner, M.1
Hanneder, M.2
Siegel, N.3
Valli, A.4
Hengstschlager, M.5
-
16
-
-
34547138684
-
Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex
-
DOI 10.1016/j.bbrc.2007.07.011, PII S0006291X07014738
-
Nakashima A, Yoshino K, Miyamoto T, Eguchi S, Oshiro N et al. (2007) Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex. Biochem Biophys Res Commun 361: 218-223. (Pubitemid 47102288)
-
(2007)
Biochemical and Biophysical Research Communications
, vol.361
, Issue.1
, pp. 218-223
-
-
Nakashima, A.1
Yoshino, K.-i.2
Miyamoto, T.3
Eguchi, S.4
Oshiro, N.5
Kikkawa, U.6
Yonezawa, K.7
-
17
-
-
77949415631
-
Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis
-
Sato N, Koinuma J, Ito T, Tsuchiya E, Kondo S et al. (2010) Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis. Genes Chrom Canc 49: 353-367.
-
(2010)
Genes Chrom Canc
, vol.49
, pp. 353-367
-
-
Sato, N.1
Koinuma, J.2
Ito, T.3
Tsuchiya, E.4
Kondo, S.5
-
18
-
-
84865371057
-
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1
-
Dibble CC, Elis W, Menon S, Qin W, Klekota J et al. (2012) TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 47: 535-546.
-
(2012)
Mol Cell
, vol.47
, pp. 535-546
-
-
Dibble, C.C.1
Elis, W.2
Menon, S.3
Qin, W.4
Klekota, J.5
-
20
-
-
34547590810
-
Functional dissection of Rab GTPases involved in primary cilium formation
-
DOI 10.1083/jcb.200703047
-
Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA (2007) Functional dissection of Rab GTPases involved in primary cilium formation. J Cell Biol 178: 363-369. (Pubitemid 47196146)
-
(2007)
Journal of Cell Biology
, vol.178
, Issue.3
, pp. 363-369
-
-
Yoshimura, S.-I.1
Egerer, J.2
Fuchs, E.3
Haas, A.K.4
Barr, F.A.5
-
21
-
-
84890134229
-
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megaencephaly
-
Capo-Chichi J-M, Tcherkezian J, Hamdan FF, Decarie JC, Dobrzeniecka S et al. (2013) Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megaencephaly. J Med Genet 50: 740-744.
-
(2013)
J Med Genet
, vol.50
, pp. 740-744
-
-
Capo-Chichi, J.-M.1
Tcherkezian, J.2
Hamdan, F.F.3
Decarie, J.C.4
Dobrzeniecka, S.5
-
22
-
-
84881022482
-
Genome-wide meta-analysis identifies new susceptibility loci for migraine
-
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F et al. (2013) Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet 45: 912-917.
-
(2013)
Nat Genet
, vol.45
, pp. 912-917
-
-
Anttila, V.1
Winsvold, B.S.2
Gormley, P.3
Kurth, T.4
Bettella, F.5
-
23
-
-
12744255189
-
Distinct effects of single amino acid changes to tuberin on the function of the tuberin-hamartin complex
-
Nellist M, Sancak O, Goedbloed MA, Rohe C, van Netten D et al. (2005) Distinct effects of single amino acid changes to tuberin on the function of the tuberin-hamartin complex. Eur J Hum Genet 13: 59-68.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 59-68
-
-
Nellist, M.1
Sancak, O.2
Goedbloed, M.A.3
Rohe, C.4
Van Netten, D.5
-
24
-
-
7144255533
-
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
-
DOI 10.1093/hmg/7.6.1053
-
van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7: 1053-1057. (Pubitemid 28256600)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.6
, pp. 1053-1057
-
-
Van Slegtenhorst, M.1
Nellist, M.2
Nagelkerken, B.3
Cheadle, J.4
Snell, R.5
Van Den, O.A.6
Reuser, A.7
Sampson, J.8
Halley, D.9
Van Der, S.P.10
-
25
-
-
70349763010
-
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
-
Mozaffari M, Hoogeveen-Westerveld M, Kwiatkowski D, Sampson J et al. (2009) 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 10 e88.
-
(2009)
BMC Med Genet
, vol.10
-
-
Mozaffari, M.1
Hoogeveen-Westerveld, M.2
Kwiatkowski, D.3
Sampson, J.4
-
26
-
-
0026356891
-
Predicting coiled coils from protein sequences
-
Lupas A, Van Dyke M, Stock J (1991) Predicting coiled coils from protein sequences. Science 252: 1162-1164. (Pubitemid 21917026)
-
(1991)
Science
, vol.252
, Issue.5009
, pp. 1162-1164
-
-
Lupas, A.1
Van Dyke, M.2
Stock, J.3
-
27
-
-
84899574568
-
-
Structural genetics consortium Protein Data Bank entry 3qw1
-
Structural genetics consortium (2011) Crystal structure of human tbc1 domain family member 7. (Protein Data Bank entry 3qw1; www.ebi.ac.uk/pdbe).
-
(2011)
Crystal Structure of Human Tbc1 Domain Family Member 7
-
-
-
28
-
-
84876500198
-
Silencing human genetic diseases with oligonucleotide-based therapies
-
Martinez T, Wright N, Lopez-Fraga M, Jimenez AI, Paneda C (2013) Silencing human genetic diseases with oligonucleotide-based therapies. Hum Genet 132: 481-93.
-
(2013)
Hum Genet
, vol.132
, pp. 481-493
-
-
Martinez, T.1
Wright, N.2
Lopez-Fraga, M.3
Jimenez, A.I.4
Paneda, C.5
|