Research output per year
Research output per year
- 18 results
Search results
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2023
Myofibrillar myopathy hallmarks associated with ZAK deficiency
Stonadge, A., Genzor, A. V., Russell, A., Hamed, M. F., Romero, N., Evans, G., Pownall, B., Bekker-Jensen, S. & Blanco, G., 1 Sept 2023, In: Human Molecular Genetics. 32, 17, p. 2751-2770 20 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2022
ZAK-beta is activated by cell compression and mediates contraction-induced MAPK signaling in muscle
Blanco, G., Brown, A. & Li, X., 28 Jul 2022, (E-pub ahead of print) In: EMBO Journal. 19 p., e111650.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2020
Proteomic resolution of IGFN1 complexes reveals a functional interaction with the actin nucleating protein COBL
Cracknell, T., Mannsverk, S., Nichols, A., Dowle, A. & Blanco, G., 15 Oct 2020, In: Experimental cell research. 395, 18 p., 112179.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2018
A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.
Blanco, G., 15 May 2018, In: Human Molecular Genetics. p. 1-9 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Skeletal Muscle Modulates Huntington's Disease Pathogenesis in Mice: Role of Physical Exercise
Blanco, G., Corrochano, S. & Acevedo-Arozena, A., 30 Oct 2018, In: Journal of Experimental Neuroscience. 12, 3 p., PMC6210627.Research output: Contribution to journal › Article
Open AccessFile -
Transcriptional up-regulation of BAG3, a Chaperone Assisted Selective Autophagy factor, in animal models of KY-deficient hereditary myopathy
Jokl, E. J., Hughes, G. L., Cracknell, T. R., Pownall, M. E. & Blanco, G., 18 Jun 2018, In: Disease Models & Mechanisms. 38 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2017
IGFN1_v1 is required for myoblast fusion and differentiation
Li, X., Baker, J., Cracknell, T. R., Haynes, A. R. & Blanco, G., 30 Jun 2017, In: PLosOne.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., Marini-Bettolo, C., Choquet, K., Dicaire, M.-J., Shao, Y.-H., Topf, A., O'Ferrall, E., Eymard, B. & Straub, V. & 5 others, , 1 Jan 2017, In: Brain : a journal of neurology. 140, 1, p. 37-48 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2016
Disrupted autophagy undermines skeletal muscle adaptation and integrity
Jokl, E. J. & Blanco, G., 2 Aug 2016, (E-pub ahead of print) In: Mammalian genome : official journal of the International Mammalian Genome Society.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
2014
A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects
Ricketts, T., McGoldrick, P., Fratta, P., de Oliveira, H. M., Kent, R., Phatak, V., Brandner, S., Blanco, G., Greensmith, L., Acevedo-Arozena, A. & Fisher, E. M. C., 21 Jan 2014, In: PLoS ONE. 9, 1, e85962.Research output: Contribution to journal › Article › peer-review
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Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
Corrochano, S., Männikkö, R., Joyce, P. I., McGoldrick, P., Wettstein, J., Lassi, G., Rayan, D. L. R., Blanco, G., Quinn, C., Liavas, A., Lionikas, A., Amior, N., Dick, J., Healy, E. G., Stewart, M., Carter, S., Hutchinson, M., Bentley, L., Fratta, P. & Cortese, A. & 9 others, , 1 Dec 2014, In: Brain. 137, 12, p. 3171-3185 15 p.Research output: Contribution to journal › Article › peer-review
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Proteomic analysis of laser capture microscopy purified myotendinous junction regions from muscle sections
Can, T., Faas, L., Ashford, D. A., Dowle, A., Thomas, J., O'Toole, P. & Blanco, G., 7 May 2014, In: Proteome Science. 12, 25Research output: Contribution to journal › Article › peer-review
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2013
The formation of strongly bound cross-bridges is favored in mice carrying the myopathy-linked myosin heavy chain mutation, MYH4L342Q
Lindqvist, J., Iwamoto, H., Blanco, G. & Ochala, J., May 2013, In: Disease Models & Mechanisms. 6, 3, p. 834-840 7 p.Research output: Contribution to journal › Article › peer-review
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2012
Confocal Microendoscopy of Neuromuscular Synapses in Living Mice
Blanco, G. & Ribchester, R. R., 1 Mar 2012, Current Protocols, p. 1-8 8 p.Research output: Contribution to specialist publication › Article
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Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb
Kurapati, R., McKenna, C., Lindqvist, J., Williams, D., Simon, M., LeProust, E., Baker, J., Cheeseman, M., Carroll, N., Denny, P., Laval, S., Lochmueller, H., Ochala, J. & Blanco, G., 15 Apr 2012, In: Human Molecular Genetics. 21, 8, p. 1706-1724 19 p., ddr605.Research output: Contribution to journal › Article › peer-review
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2010
Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1
Baker, J., Riley, G., Romero, M. R., Haynes, A. R., Hilton, H., Simon, M., Hancock, J., Tateossian, H., Ripoll, V. M. & Blanco, G., 1 Jul 2010, In: Experimental cell research. 316, 11, p. 1856-1870 15 p.Research output: Contribution to journal › Article › peer-review
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2009
Axonal and neuromuscular synaptic phenotypes in Wld(S), SOD1(G93A) and ostes mutant mice identified by fiber-optic confocal microendoscopy
Wong, F., Fan, L., Wells, S., Hartley, R., Mackenzie, F. E., Oyebode, O., Brown, R., Thomson, D., Coleman, M. P., Blanco, G. & Ribchester, R. R., Nov 2009, In: Molecular and cellular neuroscience. 42, 4, p. 296-307 12 p.Research output: Contribution to journal › Article › peer-review
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Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse
Mackenzie, F. E., Romero, R., Williams, D., Gillingwater, T., Hilton, H., Dick, J., Riddoch-Contreras, J., Wong, F., Ireson, L., Powles-Glover, N., Riley, G., Underhill, P., Hough, T., Arkell, R., Greensmith, L., Ribchester, R. R. & Blanco, G., 1 Oct 2009, In: Human Molecular Genetics. 18, 19, p. 3553-3566 14 p.Research output: Contribution to journal › Article › peer-review