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Results 1-10 of 15 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2020Drosophila as a model to understand autophagy deregulation in human disordersDenton, D.; O'Keefe, L.; Kumar, S.; Martinez, A.B.; Galluzzi, L.
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
2017NAD deficiency, congenital malformations, and niacin supplementationShi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
2019International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaTsoli, M.; Shen, H.; Mayoh, C.; Franshaw, L.; Ehteda, A.; Upton, D.; Carvalho, D.; Vinci, M.; Meel, M.H.; van Vuurden, D.; Plessier, A.; Castel, D.; Drissi, R.; Farrell, M.; Cryan, J.; Crimmins, D.; Caird, J.; Pears, J.; Francis, S.; Ludlow, L.E.A.; et al.
2020Phenotypic characterization and comparison of Phe508del and cystic fibrosis transmembrane conductance regulator (CFTR) knockout rat models of cystic fibrosis generated by CRISPR/Cas9 gene editingMcCarron, A.; Cmielewski, P.; Reyne, N.; McIntyre, C.; Finnie, J.; Craig, F.; Rout-Pitt, N.; Delhove, J.; Schjenken, J.E.; Chan, H.Y.; Boog, B.; Knight, E.; Gilmore, R.C.; O'Neal, W.K.; Boucher, R.C.; Parsons, D.; Donnelley, M.
2019Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesJackson, M.R.; Loring, K.E.; Homan, C.C.; Thai, H.N.; Määttänen, L.; Arvio, M.; Jarvela, I.; Shaw, M.; Gardner, A.; Gecz, J.; Shoubridge, C.
2015p75NTR ectodomain is a physiological neuroprotective molecule against amyloid-beta toxicity in the brain of Alzheimer's diseaseYao, X.Q.; Jiao, S.S.; Saadipour, K.; Zeng, F.; Wang, Q.H.; Zhu, C.; Shen, L.L.; Zeng, G.H.; Liang, C.R.; Wang, J.; Liu, Y.H.; Hou, H.Y.; Xu, X.; Su, Y.P.; Fan, X.T.; Xiao, H.L.; Lue, L.F.; Zeng, Y.Q.; Giunta, B.; Zhong, J.H.; et al.
2001Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseLitjens, T.; Hopwood, J.
2008Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activityNornes, S.; Newman, M.; Verdile, G.; Wells, S.; Stoick-Cooper, C.; Tucker, B.; Frederich-Sleptsova, I.; Martins, R.; Lardelli, M.
2009Grape seed polyphenols and curcumin reduce genomic instability events in a transgenic mouse model for Alzheimer's diseaseThomas, P.; Wang, Y.; Zhong, J.; Kosaraju, S.; Callaghan, N.; Zhou, X.; Fenech, M.

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