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variant tsc 1 protein tsc 2 variants analysis tsc 2 mouse wild-type level signal mutation truncation expression inclusion substitution figure antibody tsc 1 variants embryo wild-type tsc 1 fxr 1 þ tuberou sclerosis change region brain tuberous sclerosis fxr 1p genet phosphorylation muscle presence genetic assay 1–tsc effect activity study t 389/s ratio rheb ϫ/ϫ embryos wild-type tsc 1–tsc function nellist control number acid substitutions van den ouweland intranuclear inclusions ratio tissue result missense fxr 1 ko tsc 1–tsc tsc 1 function l 117p variants premutation disease neuron 389/ intranuclear interaction syndrome expanded-repeat tsc 1 truncations immunoblot l 50p fraction model assessment wild-type tsc 2 tsc 2 lovd triton patient table n-terminal region torc 1 activity individual n-terminal experiment
7 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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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
(Article)
Hoogeveen-Westerveld, M. Exalto, C. Maat-Kievit, A.A. Ouweland, A.M.W. van den Halley, D. Nellist, M. |
2010-09-01
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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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A reliable cell-based assay for testing unclassified TSC2 gene variants
(Article)
Coevoets, R. Arican, S. Hoogeveen-Westerveld, M. Simons, E.J. Ouweland, A.M.W. van den Halley, D. Nellist, M. |
2009-01-01
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Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.
(Article)
Mientjes, E.J. Willemsen, R. Nelson, D.L. Kirkpatrick, L.L. Nieuwenhuizen, I.M. Hoogeveen-Westerveld, M. Verweij, M. Reis, S. Bardoni, B. Hoogeveen, A.T. Oostra, B.A. |
2004-07-01
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
(Article)
Willemsen, R. Unen, L. van Severijnen, L.A. Nieuwenhuizen, I.M. Schrier, M. Tassone, F. Oostra, B.A. Hoogeveen, A.T. Mientjes, E.J. Hagerman, P.J. Hoogeveen-Westerveld, M. Reis, S. Holstege, J. |
2003-01-01
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