Blanco, Gonzalo - York University - Department of Biology

个人简介

Gonzalo Blanco is a lecturer in eukaryotic genetics in Biology since 2010. His PhD at the university of Seville (Spain) and first postdoctoral research at Sussex University focused on manipulating nitrogen fixation pathways in free-living bacteria. A highlight was the successful modification of Azotobacter vinelindii to excrete ammonium, patented work published in Molecular Microbiology and other journals. He switched fields in 1994 to study neuromuscular mouse models of disease with Prof Steve Brown at Imperial College and, later on, at the MRC Harwell. The association of two novel proteins, KY and PKD1L2, with muscle disease in the mouse are noteworthy findings from this period. His current research focuses on understanding the molecular basis of the muscle mechanotransduction.

研究领域

Our objective is to elucidate mechanisms of neuromuscular disease and muscle hypertrophy. We described that KY –a novel protein at the time- and Pkd1l2 -a homologue of the polycystic kidney disease gene- are associated with distinctive neuromuscular diseases in the mouse. We have also show that a recessive mutation in the most abundant skeletal muscle myosin in the mouse (MYHC IIb) causes a fulminant myofibrillar myopathy. The role of the KY protein in muscle function has been a continuous focus in the group since we discovered that the ky gene was responsible for a muscular dystrophy and a lack of normal hypertrophic response in the mouse. Muscle atrophy is a common denominator in all of our neuromuscular mutants, but this feature is particularly relevant in the ky mouse. We are currently addressing the hypothesis that novel players of the muscle hypertrophic process may be revealed by disentangling the KY protein complex. Understanding the molecular dynamic underlying muscle adaptations is co-substantial to the prevention of muscle loss and quality of life caused by age, disease or environmental conditions.

近期论文

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Lindqvist, J., Iwamoto, H., Blanco, G. and Ochala, J. The formation of strongly bound cross-bridges is favored in mice carrying the myopathy-linked myosin heavy chain mutation, MYH4(L342Q). Disease Models and Mechanisms 6(3), 2013, 834-40. Blanco, G., and Ribchester, R. R. Confocal microscopy of neuromuscular synapses in living mice. Current Protocols in Mouse Biology,2012, DOI: 10.1002/9780470942390.mo110144. Kurapati R., McKenna C., Lindqvist J., Williams D., Simon M., LeProust E., Baker J., Cheeseman M., Carroll N., Denny P., Laval S., Lochmüller H., Ochala J. and Blanco G*. Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. Human Molecular Genetics, 15, 2012, 1706-24. Baker, J., Riley, M., Romero, R., Haynes, A., Hilton H., Simon, M., Hancock, J., Ripoll, V., and Blanco G*. Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1. Experimental Cell Research, 316 (11), 2010, 1856-70. Mackenzie, F., Romero, R., Hilton, H., Wong, F., Williams, D., Arkell, R., Greensmith, L., Gillingwater, T., Ribchester, R., and Blanco G*. Upregulation of Pkd1l2 provokes a complex neuromuscular disease in mice. Human Molecular Genetics, 18, 2009, 3553-3566. Wong, F., Fan, L., Mackenzie, F., Coleman, M., Blanco G* and * Ribchester, R. Axonal and neuromuscular synaptic phenotypes in Wld(S), SOD1(G93A) and ostes mutant mice identified by fiber-optic confocal microendoscopy. Molecular and Cellular Neuroscience, 42(4), 2009, 296-307.