Pook, Mark - Brunel University - Department of Life Sciences, Biomedical Sciences

个人简介

Dr Mark Pook graduated with a BSc (Hons) Genetics from the University of Leeds in 1985 and a PhD in Medical Genetics from the University of Manchester in 1990. He then undertook post-doctoral appointments in the MRC Molecular Medicine Group, RPMS, Hammersmith Hospital from 1989-1993 and the Cell and Molecular Biology Section, Imperial College London from 1993-2002. He was appointed as Lecturer in Genetics at Imperial College London from 2002-2005. He then transferred to Brunel University as a Lecturer in Biosciences from 2005-2007. He was promoted to Senior Lecturer in Biosciences from 2007-2012 and then Reader in Biosciences from 2012 to present.

研究领域

Dr Mark Pook has had a long-standing interest in molecular genetic studies of the inherited neurodegenerative disorder, Friedreich ataxia (FRDA), contributing since 1993 to the mapping of the disease locus, the isolation of candidate genes and the identification of novel FXN mutations. He also has many years experience in transgenic technology, culminating in the development of GAA repeat expansion-containing human YAC FRDA transgenic mouse models for the investigation of FRDA disease pathogenesis and therapeutic studies. Current research interests include studying the effects of epigenetic modifications and GAA repeat instability in FRDA pathogenesis, developing mouse neural stem cell (NSC), neuronal and glial cellular models of FRDA and identifying novel biomarkers and potential therapies for FRDA.

近期论文

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Anjomani-Virmouni, S. , Al-Mahdawi, S. , Sandi, S. , Yasaei, H. , et al. (2015) 'Identification of telomere dysfunction in Friedreich ataxia.'. Mol. Neurodegen. doi: 10.1186/s13024-015-0019-6 Download publication Anjomani Virmouni, S. , Ezzatizadeh, V. , Sandi, C. , Sandi, M. , et al. (2015) 'A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia'. Dis Model Mech, 8 (3). pp. 225 - 235. doi: 10.1242/dmm.018952 Download publication Al-Mahdawi, S. , Virmouni, SA. and Pook, MA. (2014) 'The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases'. Frontiers in Neuroscience, 8 (DEC). doi: 10.3389/fnins.2014.00397 Download publication Sahdeo, S. , Scott, BD. , McMackin, MZ. , Jasoliya, M. , et al. (2014) 'Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia'. Human Molecular Genetics, 23 (25). pp. 6848 - 6862. doi: 10.1093/hmg/ddu408 Download publication Hayashi, G. , Shen, Y. , Pedersen, TL. , Newman, JW. , et al. (2014) 'Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia'. Human Molecular Genetics, 23 (25). pp. 6838 - 6847. doi: 10.1093/hmg/ddu407 Download publication Chan, PK. , Torres, R. , Yandim, C. , Law, PP. , et al. (2013) 'Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3'. Human Molecular Genetics, 22 (13). pp. 2662 - 2675. Shan, Y. , Schoenfeld, RA. , Hayashi, G. , Napoli, E. , et al. (2013) 'Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's Ataxia YG8R mouse model'. Antioxidants and Redox Signaling, 19 (13). pp. 1481 - 1493. doi: 10.1089/ars.2012.4537 Al-Mahdawi, S. , Sandi, C. and Pook, M. (2013) 'Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus'. PLoS One, 8 (9). doi: 10.1371/journal.pone.0074956 Download publication Perdomini, M. , Hick, A. , Puccio, H. and Pook, MA. (2013) 'Animal and cellular models of Friedreich ataxia'. Journal of Neurochemistry, 126 (SUPPL.1). pp. 65 - 79. doi: 10.1111/jnc.12219 Sandi, C. , Al-Mahdawi, S. and Pook, M. (2013) 'Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy'. Genetics Research International, 2013 doi: 10.1155/2013/852080 Download publication Li, L. , Lucille, V. , Sandi, C. , Pook, M. , et al. (2013) 'Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia'. PLoS One, 8 (2). doi: 10.1371/journal.pone.0055940 Download publication Xia, H. , Cao, Y. , Dai, X. , Marelja, Z. , et al. (2012) 'Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia'. PLoS ONE, 7 (10). doi: 10.1371/journal.pone.0047847 Download publication Bourn, RL. , Pinto, RM. , Sandi, C. , Al-Mahdawi, S. , et al. (2012) 'Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues'. PLoS One, 7 (10). doi: 10.1371/journal.pone.0047085 Download publication Tomassini, B. , Arcuri, G. , Fortuni, S. , Condò, I. , et al. (2012) 'Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model'. Human Molecular Genetics, 21 (13). pp. 2855 - 2861. doi: 10.1093/hmg/dds110 Download publication Ezzatizadeh, V. , Mouro Pinto, R. , Sandi, C. , Sandi, M. , et al. (2012) 'The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model'. Neurobiology of Disease, 46 (1). pp. 165 - 171. doi: 10.1016/j.nbd.2012.01.002 Download publication Sandi, C. , Pinto, RM. , Al-Mahdawi, S. , Ezzatizadeh, V. , et al. (2011) 'Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model'. Neurobiology of Disease, 42 (3). pp. 496 - 505. Laitano, O. , Kalsi, KK. , Pook, M. , Oliveira, AR. and González-Alonso, J. (2010) 'Separate and combined effects of heat stress and exercise on circulatory markers of oxidative stress in euhydrated humans'. European Journal of Applied Physiology, 110 (5). pp. 953 - 960. doi: 10.1007/s00421-010-1577-5 Chen, X. , Tang, T-S. , Tu, H. , Nelson, O. , et al. (2008) 'Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3'. The Journal of Neuroscience, 28 (48). pp. 12713 - 12724. doi: 10.1523/JNEUROSCI.3909-08.2008 Download publication Al-Mahdawi, S. , Pinto, RM. , Ismail, O. , Varshney, D. , et al. (2008) 'The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues'. Human Molecular Genetics, 17 (5). pp. 735 - 746. doi: 10.1093/hmg/ddm346 Download publication De Biase, I. , Rasmussen, A. , Endres, D. , Al-Mahdawi, S. , et al. (2007) 'Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients'. Annals of Neurology, 61 (1). pp. 55 - 60. doi: 10.1002/ana.21052