Koh, A., Sarusie, M.V., Ohmer, J., Fischer, U., Winkler, C., Wohland, T. (2021) Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy. Frontiers in cell and developmental biology. 9:639904
|
Oprişoreanu, A.M., Smith, H.L., Krix, S., Chaytow, H., Carragher, N.O., Gillingwater, T.H., Becker, C.G., Becker, T. (2021) Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy. Disease models & mechanisms. 14(4):
|
Oprişoreanu, A.M., Smith, H.L., Arya, S., Webster, R., Zhong, Z., Wehner, D., Cardozo, M.J., Becker, T., Talbot, K., Becker, C.G. (2019) Interaction of Axonal Chondrolectin with Collagen XIXa1 Is Necessary for Precise Neuromuscular Junction Formation. Cell Reports. 29:1082-1098.e10
|
Osman, E.Y., Bolding, M.R., Villalón, E., Kaifer, K.A., Lorson, Z.C., Tisdale, S., Hao, Y., Conant, G.C., Pires, J.C., Pellizzoni, L., Lorson, C.L. (2019) Functional characterization of SMN evolution in mouse models of SMA. Scientific Reports. 9:9472
|
Varga, M., Ralbovszki, D., Balogh, E., Hamar, R., Keszthelyi, M., Tory, K. (2018) Zebrafish Models of Rare Hereditary Pediatric Diseases. Diseases (Basel, Switzerland). 6(2)
|
Boyd, P.J., Tu, W.Y., Shorrock, H.K., Groen, E.J.N., Carter, R.N., Powis, R.A., Thomson, S.R., Thomson, D., Graham, L.C., Motyl, A.A.L., Wishart, T.M., Highley, J.R., Morton, N.M., Becker, T., Becker, C.G., Heath, P.R., Gillingwater, T.H. (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genetics. 13:e1006744
|
Hao, L.T., Duy, P.Q., An, M., Talbot, J., Iyer, C.C., Wolman, M., Beattie, C.E. (2017) HuD and the Survival Motor Neuron protein interact in motoneurons and are essential for motoneuron development, function and mRNA regulation. The Journal of neuroscience : the official journal of the Society for Neuroscience. 37(48):11559-11571
|
Riessland, M., Kaczmarek, A., Schneider, S., Swoboda, K.J., Löhr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Kröber, S., Hölker, I., Garbes, L., Gilissen, C., Hoischen, A., Nürnberg, G., Nürnberg, P., Walter, M., Rigo, F., Bennett, C.F., Kye, M.J., Hart, A.C., Hammerschmidt, M., Kloppenburg, P., Wirth, B. (2017) Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. American journal of human genetics. 100(2):297-315
|
Hosseinibarkooie, S., Peters, M., Torres-Benito, L., Rastetter, R.H., Hupperich, K., Hoffmann, A., Mendoza-Ferreira, N., Kaczmarek, A., Janzen, E., Milbradt, J., Lamkemeyer, T., Rigo, F., Bennett, C.F., Guschlbauer, C., Büschges, A., Hammerschmidt, M., Riessland, M., Kye, M.J., Clemen, C.S., Wirth, B. (2016) The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. American journal of human genetics. 99(3):647-65
|
Knierim, E., Hirata, H., Wolf, N.I., Morales-Gonzalez, S., Schottmann, G., Tanaka, Y., Rudnik-Schöneborn, S., Orgeur, M., Zerres, K., Vogt, S., van Riesen, A., Gill, E., Seifert, F., Zwirner, A., Kirschner, J., Goebel, H.H., Hübner, C., Stricker, S., Meierhofer, D., Stenzel, W., Schuelke, M. (2016) Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. American journal of human genetics. 98(3):473-89
|
|
Powis, R.A., Karyka, E., Boyd, P., Côme, J., Jones, R.A., Zheng, Y., Szunyogova, E., Groen, E.J., Hunter, G., Thomson, D., Wishart, T.M., Becker, C.G., Parson, S.H., Martinat, C., Azzouz, M., Gillingwater, T.H. (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI insight. 1:e87908
|
|
|
|
Li, H., Custer, S.K., Gilson, T., Hao, L.T., Beattie, C.E., Androphy, E.J. (2015) α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth. Human molecular genetics. 24(25):7295-307
|
McGovern, V.L., Massoni-Laporte, A., Wang, X., Le, T.T., Le, H.T., Beattie, C.E., Rich, M.M., Burghes, A.H. (2015) Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse. PLoS One. 10:e0132364
|
Miller, N., Feng, Z., Edens, B.M., Yang, B., Shi, H., Sze, C.C., Hong, B.T., Su, S.C., Cantu, J.A., Topczewski, J., Crawford, T.O., Ko, C.P., Sumner, C.J., Ma, L., Ma, Y.C. (2015) Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 35:6038-50
|
Lyon, A.N., Pineda, R.H., Hao, L.T., Kudryashova, E., Kudryashov, D.S., and Beattie, C.E. (2014) Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons. Human molecular genetics. 23(8):1990-2004
|
See, K., Yadav, P., Giegerich, M., Cheong, P.S., Graf, M., Vyas, H., Lee, S.G., Mathavan, S., Fischer, U., Sendtner, M., and Winkler, C. (2014) SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. Human molecular genetics. 23(7):1754-70
|
Wiley, D.J., Juan, I., Le, H., Cai, X., Baumbach, L., Beattie, C., D'Urso, G. (2014) Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases. F1000Research. 3:121
|
Wishart, T.M., Mutsaers, C.A., Riessland, M., Reimer, M.M., Hunter, G., Hannam, M.L., Eaton, S.L., Fuller, H.R., Roche, S.L., Somers, E., Morse, R., Young, P.J., Lamont, D.J., Hammerschmidt, M., Joshi, A., Hohenstein, P., Morris, G.E., Parson, S.H., Skehel, P.A., Becker, T., Robinson, I.M., Becker, C.G., Wirth, B., Gillingwater, T.H. (2014) Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J. Clin. Invest.. 124:1821-34
|
Gassman, A., Hao le, T., Bhoite, L., Bradford, C.L., Chien, C.B., Beattie, C.E, and Manfredi, J.P. (2013) Small molecule suppressors of Drosophila Kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy. PLoS One. 8(9):e74325
|
Winkler, C., Eggert, C., Gradl, D., Meister, G., Giegerich, M., Wedlich, D., Laggerbauer, B., and Fischer, U. (2005) Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes & Development. 19(19):2320-2330
|
|