Chromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism

Autor: Anowarul Islam, Zeeshan Shaukat, David L. Newman, Rashid Hussain, Michael G. Ricos, Leanne Dibbens, Stephen L. Gregory

Publikováno v: Metabolites, Vol 13, Iss 5, p 642 (2023)

Aneuploidy, or having a disrupted genome, is an aberration commonly found in tumours but rare in normal tissues. It gives rise to proteotoxic stress as well as a stereotypical oxidative shift, which makes these cells sensitive to internal and environ

Externí odkaz: https://doaj.org/article/4238da4def2946f3a9541570b02f4c76

Investigating genetic variants in microRNA regulators of Neurokinin-1 receptor in sudden infant death syndrome

Autor: Zeeshan Shaukat, Roger W. Byard, Robert Vink, Rashid Hussain, Michael G. Ricos, Leanne M. Dibbens

Refereed/Peer-reviewed Sudden infant death syndrome (SIDS) occurs more often in male than in female infants, suggesting involvement of the X-chromosome. Histopathological studies have suggested that altered expression of the Neurokinin-1 receptor may

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0fd8707c1559d90934a0ec53d58a12
https://hdl.handle.net/11541.2/31894

Functional effects of Epilepsy associated KCNT1 mutations suggest pathogenesis via aberrant inhibitory neuronal activity

Autor: Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 15133
Rychkov, G Y, Shaukat, Z, Lim, C X, Hussain, R, Roberts, B J, Bonardi, C M, Rubboli, G, Meaney, B F, Whitney, R, Møller, R S, Ricos, M G & Dibbens, L M 2022, ' Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity ', International Journal of Molecular Sciences, vol. 23, no. 23, 15133 . https://doi.org/10.3390/ijms232315133

Refereed/Peer-reviewed KCNT1 (K+ channel subfamily T member 1) is a sodium-activated potassium channel highly expressed in the nervous system which regulates neuronal excitability by contributing to the resting membrane potential and hyperpolarisatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::457184502f6a85b277ecd10eb5f5c133
https://hdl.handle.net/11541.2/32306

Mutations inKCNT1cause a spectrum of focal epilepsies

Autor: Sylvia Klinkenberg, Heather C Mefford, Marta A. Bayly, Pia Gellert, Rima Nabbout, Clair Pridmore, Elena Gardella, Federico Zara, Annapurna Poduri, Line H.G. Larsen, Kent Kelley, Hans Atli Dahl, Pasquale Striano, David J.A. Callen, Marjan J. A. van Kempen, Ian Andrews, Gemma L. Carvill, Bente Kragh-Olsen, Leanne M. Dibbens, Marina Nikanorova, Simone C. Yendle, Chiao Xin Lim, Nicholas J.C. Smith, Gabriel M. Ronen, Michael G. Ricos, Jacinta M McMahon, Boudewijn Gunning, Maria Giuseppina Baglietto, Sarah E. Heron, Rikke S. Møller, Ingrid E. Scheffer

Publikováno v: ResearcherID
Møller, R S, Heron, S E, Larsen, L H G, Lim, C X, Ricos, M G, Bayly, M A, van Kempen, M J A, Klinkenberg, S, Andrews, I, Kelley, K, Ronen, G M, Callen, D, McMahon, J M, Yendle, S C, Carvill, G L, Mefford, H C, Nabbout, R, Poduri, A, Striano, P, Baglietto, M G, Zara, F, Smith, N J, Pridmore, C, Gardella, E, Nikanorova, M, Dahl, H A, Gellert, P, Scheffer, I E, Gunning, B, Kragh-Olsen, B & Dibbens, L M 2015, ' Mutations in KCNT1 cause a spectrum of focal epilepsies ', Epilepsia, vol. 56, no. 9, pp. e114-e120 . https://doi.org/10.1111/epi.13071
Epilepsia, 56(9), E114-E120. Wiley
Epilepsia, 56(9), e114. Wiley-Blackwell

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To furth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b433f9b191c0cb22d6b4bd8b27b48419
https://doi.org/10.1111/epi.13071

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

Autor: Federica Provini, Samuel F. Berkovic, Francesca Bisulli, Laura Licchetta, Ingrid E. Scheffer, Paolo Tinuper, Leanne M. Dibbens, Michael G. Ricos, Sarah E. Heron, Bree L. Hodgson, Douglas E. Crompton, Simone Mandelstam, Brigid M. Regan, Lata Vadlamudi, Alan Connelly, Jozef Gecz

Publikováno v: Annals of Neurology. 75:782-787

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a32a3dc65e3bbca68fb1c8a4cac9aee
https://doi.org/10.1002/ana.24126