Mark Nellist

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
    An C Jansen
    Neurogenetics Unit, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada
    Ann Neurol 60:528-39. 2006
  2. pmc A reliable cell-based assay for testing unclassified TSC2 gene variants
    Ricardo Coevoets
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 17:301-10. 2009
  3. ncbi TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
    M Nellist
    Department of Clinical Genetics, Erasmus University, 3015 GE Rotterdam, The Netherlands
    Hum Mol Genet 10:2889-98. 2001
  4. ncbi Identification and characterization of the interaction between tuberin and 14-3-3zeta
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medisch Centrum, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    J Biol Chem 277:39417-24. 2002
  5. doi Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Hum Mutat 34:167-75. 2013
  6. ncbi Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Biochim Biophys Acta 1802:774-81. 2010
  7. doi Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Hum Mutat 32:424-35. 2011
  8. pmc Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
    Melika Mozaffari
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 10:88. 2009
  9. pmc Missense mutations to the TSC1 gene cause tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 17:319-28. 2009
  10. pmc Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 9:10. 2008

Collaborators

Detail Information

Publications17

  1. ncbi Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
    An C Jansen
    Neurogenetics Unit, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada
    Ann Neurol 60:528-39. 2006
    ..To report the clinical manifestations and functional aspects of Tuberous Sclerosis Complex (TSC), resulting from Codon 905 mutations in TSC2 gene...
  2. pmc A reliable cell-based assay for testing unclassified TSC2 gene variants
    Ricardo Coevoets
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 17:301-10. 2009
    ..In 12 cases, we concluded that the identified variant was pathogenic. The ICW is a rapid, reproducible assay, which can be applied to the characterisation of the effects of novel TSC2 variants on the activity of the TSC1-TSC2 complex...
  3. ncbi TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
    M Nellist
    Department of Clinical Genetics, Erasmus University, 3015 GE Rotterdam, The Netherlands
    Hum Mol Genet 10:2889-98. 2001
    ..Although mutations that prevent tuberin tyrosine phosphorylation also inhibit tuberin-hamartin binding and the chaperone function, our results indicate that only hamartin is phosphorylated in the tuberin-hamartin complex...
  4. ncbi Identification and characterization of the interaction between tuberin and 14-3-3zeta
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medisch Centrum, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    J Biol Chem 277:39417-24. 2002
    ..Finally, it was shown that the tuberin/14-3-3zeta interaction is regulated by Akt-mediated phosphorylation of tuberin, providing insight into how tuberin may regulate phosphorylation of S6...
  5. doi Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Hum Mutat 34:167-75. 2013
    ..Our data support the notion that different, nonterminating TSC2 mutations can have distinct effects on TSC1-TSC2 function, and therefore, on TSC pathology...
  6. ncbi Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Biochim Biophys Acta 1802:774-81. 2010
    ..Here we investigate TSC1 structure and function by analysing a series of truncated TSC1 proteins. We identify specific regions of the protein that are important for TSC1 stability, localisation, interactions and function...
  7. doi Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Hum Mutat 32:424-35. 2011
    ..In addition we identified eight putative splice site mutations (five TSC1 and three TSC2). The remaining 24 TSC1 and 34 TSC2 variants were classified as probably neutral...
  8. pmc Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
    Melika Mozaffari
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 10:88. 2009
    ..Recently it has been shown that missense mutations to the TSC1 gene can cause TSC...
  9. pmc Missense mutations to the TSC1 gene cause tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 17:319-28. 2009
    ..We show that specific amino-acid substitutions close to the N-terminal of TSC1 reduce steady-state levels of TSC1, resulting in the activation of mTOR signalling and leading to the symptoms of TSC...
  10. pmc Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 9:10. 2008
    ..3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR)...
  11. ncbi Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus MC, 3015 GE Rotterdam, The Netherlands
    Eur J Hum Genet 13:59-68. 2005
    ..Here, we investigate how these mutations affect the role of tuberin in the control of signal transduction through mTOR. Our data indicate that specific amino-acid substitutions have distinct effects on tuberin function...
  12. doi Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, 3015 GE Rotterdam, The Netherlands
    Hum Mutat 33:476-9. 2012
    ..Our new data confirm our previous finding that the N-terminal region of TSC1 is essential for TSC1 function...
  13. ncbi Phosphorylation and binding partner analysis of the TSC1-TSC2 complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medisch Centrum, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Biochem Biophys Res Commun 333:818-26. 2005
    ..In addition, we identified three TSC1-TSC2 interacting proteins, including DOCK7 a putative rhebGEF...
  14. ncbi Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
    Ozgur Sancak
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Hum Genet 13:731-41. 2005
    ..Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2 mutation...
  15. pmc The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Dr, Molewaterplein 50, Rotterdam, 3015 GE, The Netherlands
    BMC Biochem 13:18. 2012
    ..Here we investigate the quaternary structure of the TSC1-TSC2 complex by gel filtration and coimmunoprecipitation...
  16. pmc Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex
    Arthur Jorge Santiago Lima
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    PLoS ONE 9:e93940. 2014
    ..Furthermore, we show that the TBC1D7 binding site is encoded by TSC1 exon 22 and identify amino acid residues involved in the TSC1-TBC1D7 interaction. ..
  17. ncbi Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
    Han C Dan
    Department of Pathology, Molecular Oncology, and Drug Discovery Programs, University of South Florida College of Medicine, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612, USA
    J Biol Chem 277:35364-70. 2002
    ..Our results indicate that tuberin is a direct physiological substrate of Akt and that phosphorylation of tuberin by PI3K/Akt is a major mechanism controlling hamartin-tuberin function...