研究领域
Our group uses molecular cell biology techniques to study different diseases and cellular pathways. Specifically, we use mass spectrometry and the yeast two-hybrid system to identify proteins complexes that may be altered in the aforementioned diseases. Our recent studies have shown that the ubiquitin proteasome system can modulate the stability and trafficking of proteins associated with this diverse group of disorders. Additionally, we use fluorescence and confocal imaging systems to study physiological processes in live cells and to create cellular models of disease.
近期论文
查看导师新发文章
(温馨提示:请注意重名现象,建议点开原文通过作者单位确认)
Grütz, K.et al. 2017. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Scientific Reports 7, pp. 4., article number: 41156. (10.1038/srep41156) pdf
Harvey, E.et al. 2017. Potency of human cardiosphere-derived cells from patients with ischemic heart disease is associated with robust vascular supportive ability. Stem Cells Translational Medicine (10.1002/sctm.16-0229) pdf
Waite, A.et al. 2016. Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain. Movement Disorders 31(11), pp. 1694-1703. (10.1002/mds.26738) pdf
Koppers, M.et al. 2015. C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits. Annals of Neurology 78(3), pp. 426-438. (10.1002/ana.24453)
Peall, K.et al. 2014. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 261(12), pp. 2296-2304. (10.1007/s00415-014-7488-3)
Hill, M.et al. 2014. Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability. Current Behavioral Neuroscience Reports 1(4), pp. 206-214. (10.1007/s40473-014-0027-9)
Peall, K.et al. 2014. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Neuroscience 272, pp. 88-91. (10.1016/j.neuroscience.2014.04.034)
Waite, A.et al. 2014. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of Aging 35(7), pp. 1779.e5. (10.1016/j.neurobiolaging.2014.01.016)
Forrest, M.et al. 2014. The emerging roles of TCF4 in disease and development. Trends in Molecular Medicine 20(6), pp. 322-331. (10.1016/j.molmed.2014.01.010)