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tuberin hamartin protein variant tsc 1 mutation interaction expression substitution binding tuberou analysis sclerosis patient phosphorylation gst -14-3-3 beads tsc 1 gene domain wild-type embryo tuberous sclerosis function antibody acid substitutions change tsc 2 figure lysate pattern result rheb ϫ/ϫ embryos beads fraction chaperone function wild-type tsc 1 tuberin-hamartin assay tuberinhamartin r 905q variants wild-type tuberin tsc 1 variants tsc patients genet -14-3-3 missense chaperone hek 293t cells tsc 2 gene number v 769e variants 14-3-3 tuberin variants hamartinr l 117p variants activity tsc 1 function effect presence expression pattern hamartinh 732y association experiment tyrosine study genetic two-hybrid fcdiib yeast l 50p deletion localization transfected sequence hamartinh control 1-tsc erasmus mc cos cells signal microscopy
8 Most Recent Publications
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Rheb is essential for murine development
(Article)
Goorden, S.M.I. Hoogeveen-Westerveld, M. Cheng, C. Woerden, G.M. van Mozaffari, E. Post, L. Duckers, H.J. Nellist, M.D. Elgersma, Y. |
2011-04-01
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Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro
(Article)
Lugnier, C. Majores, M. Fassunke, J. Pernhorst, K. Niehusmann, P. Simon, M. Nellist, M.D. Schoch, S. Becker, A. |
2009-10-01
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
(Article)
Mozaffari, E. Hoogeveen-Westerveld, M. Kwiatkowski, D. Sampson, J. Ekong, R. Povey, S. Dunnen, J.T. den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M.D. |
2009-09-11
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Identification and characterization of the interaction between tuberin and 14-3-3zeta.
(Article)
Nellist, M.D. Goedbloed, M.A. Winter, C. de Verhaaf, B. Jankie, A. Reuser, A.J.J. Ouweland, A.M.W. van den Sluijs, P. van der Halley, D.J.J. |
2002-10-18
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TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
(Article)
Nellist, M.D. Verhaaf, B. Goedbloed, M.A. Reuser, A.J.J. Ouweland, A.M.W. van den Halley, D.J.J. |
2001-01-01
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Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
(Article)
Verhoef, S. Tempelaars, A. Slegtenhorst, M.A. van Bakker, L. Wang, Q. Wessels, M.W. Nellist, M.D. Bakker, R. Lindhout, D. Halley, D.J.J. Ouweland, A.M.W. van den |
1999-01-01
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Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin
(Article)
Nellist, M.D. Slegtenhorst, M.A. van Ouweland, A.M.W. van den Halley, D.J.J. Sluijs, P. van der Goedbloed, M.A. |
1999-01-01
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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
(Article)
Nellist, M.D. Nagelkerken, B. Cheadle, J. Snell, R. Sampson, J. Sluijs, P. van der Halley, D.J.J. Ouweland, A.M.W. van den Reuser, A.J.J. Slegtenhorst, M.A. van |
1998-01-01
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