Select Publications
Journal articles
2013, 'ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling', Journal of Clinical Investigation, 123, pp. 4255 - 4263, http://dx.doi.org/10.1172/JCI67691
,2011, '&-Actinin-3 deficiency is associated with reducted bone mass in human and mouse', Bone, 49, pp. 790 - 798, http://dx.doi.org/10.1016/j.bone.2011.07.009
,2011, 'Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling', Human Molecular Genetics, 20, pp. 2914 - 2927, http://dx.doi.org/10.1093/hmg/ddr196
,2011, 'The effect of alpha-actinin-3 deficiency on muscle aging', Experimental Gerontology, 46, pp. 292 - 302, http://dx.doi.org/10.1016/j.exger.2010.11.006
,2011, 'The multi-zinc finger protein ZNF217 contacts DNA through a two-finger domain', The Journal of Biological Chemistry, 286, pp. 38190 - 38201, http://dx.doi.org/10.1074/jbc.M111.301234
,2010, 'The evolution of skeletal muscle performance: Gene duplication and divergence of human sarcomeric α-actinins', BioEssays, 32, pp. 17 - 25, http://dx.doi.org/10.1002/bies.200900110
,2010, 'Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle', Human Molecular Genetics, 19, pp. 1335 - 1346, http://dx.doi.org/10.1093/hmg/ddq010
,2008, 'An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance', Human Molecular Genetics, 17, pp. 1076 - 1086, http://dx.doi.org/10.1093/hmg/ddm380
,2007, 'Amplification of zinc finger gene 217 (ZNF217) and cancer: When good fingers go bad', Biochimica et Biophysica ACTA - Reviews on Cancer, 1775, pp. 333 - 340
,2007, 'Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans', Nature Genetics, 39, pp. 1261 - 1265
,2006, 'A L225A substitution in the human tumour suppressor HIC1 abolishes its interaction with the corepressor CtBP', FEBS Journal, 273, pp. 2879 - 2890
,2006, 'Human KLF17 is a new member of the Sp/KLF family of transcription factors', Genomics, 87, pp. 474 - 482
,2006, 'Mechanisms directing the nuclear localization of the CtBP family', Molecular and Cellular Biology, 26, pp. 4882 - 4894, http://dx.doi.org/10.1128/MCB.02402-05
,2006, 'Role of the C-terminal binding protein PXDLS motif binding cleft in protein interactions and transcriptional repression', Molecular and Cellular Biology, 26, pp. 8202 - 8213, http://dx.doi.org/10.1128/MCB.00445-06
,2006, 'Specific recognition of ZNF217 and other zinc-finger proteins at a surface groove of C-terminal binding proteins', Molecular and Cellular Biology, 26, pp. 8159 - 8172, http://dx.doi.org/10.1128/MCB.00680-06
,2005, 'Copper binding is the governing determinant of prion protein turnover', Molecular and Cellular Neuroscience, 30, pp. 186 - 196, http://dx.doi.org/10.1016/j.mcn.2005.07.001
,Conference Papers
2014, 'Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 792 - 793, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.010
,2012, 'ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, AUSTRALIA, Perth, pp. 904 - 904, presented at 17th International Congress of the World-Muscle-Society (WMS), AUSTRALIA, Perth, 09 October 2012 - 13 October 2012, http://dx.doi.org/10.1016/j.nmd.2012.06.331
,2009, 'alpha-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, SWITZERLAND, Geneva, pp. 545 - 546, presented at 14th International Congress of the World-Muscle-Society, SWITZERLAND, Geneva, 09 September 2009 - 12 September 2009, http://dx.doi.org/10.1016/j.nmd.2009.06.011
,Conference Abstracts
2015, 'Speed of shortening is not altered in the alpha-actinin-3 (ACTN3) 'gene of speed' knock-out mutation in fast-twitch skeletal muscle', in ACTA PHYSIOLOGICA, WILEY-BLACKWELL, Vol. 213, pp. 66 - 66, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000362554200139&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,Preprints
2024, SMYD5 is a ribosomal methyltransferase which trimethylates RPL40 lysine 22 through recognition of a KXY motif, http://dx.doi.org/10.1101/2024.10.10.616381
,2024, Modern Insights into Muscle Glycogen Phosphorylase Activity, http://dx.doi.org/10.1101/2024.02.22.581477
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