ZFIN ID: ZDB-PERS-111102-2
Ruparelia, Avnika
Email: avnika.ruparelia@monash.edu
URL:
Affiliation: Peter Currie Lab
Address: Monash University; School of Biological Sciences, Monash University, Victoria 3800, Australia
Country: Australia
Phone:
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
de Winter, J.M., Molenaar, J.P., Yuen, M., van der Pijl, R., Shen, S., Conijn, S., van de Locht, M., Willigenburg, M., Bogaards, S.J., van Kleef, E.S., Lassche, S., Persson, M., Rassier, D.E., Sztal, T.E., Ruparelia, A.A., Oorschot, V., Ramm, G., Hall, T.E., Xiong, Z., Johnson, C.N., Li, F., Kiss, B., Lozano-Vidal, N., Boon, R.A., Marabita, M., Nogara, L., Blaauw, B., Rodenburg, R.J., Kϋsters, B., Doorduin, J., Beggs, A.H., Granzier, H., Campbell, K., Ma, W., Irving, T., Malfatti, E., Romero, N.B., Bryson-Richardson, R.J., van Engelen, B.G., Voermans, N.C., Ottenheijm, C.A. (2019) KBTBD13 is an actin-binding protein that modulates muscle kinetics. The Journal of Clinical Investigation. 130(2):754-767
Sztal, T.E., McKaige, E.A., Williams, C., Ruparelia, A.A., Bryson-Richardson, R.J. (2018) Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein. PLoS Genetics. 14:e1007212
O'Grady, G.L., Best, H.A., Sztal, T.E., Schartner, V., Sanjuan-Vazquez, M., Donkervoort, S., Abath Neto, O., Sutton, R.B., Ilkovski, B., Romero, N.B., Stojkovic, T., Dastgir, J., Waddell, L.B., Boland, A., Hu, Y., Williams, C., Ruparelia, A.A., Maisonobe, T., Peduto, A.J., Reddel, S.W., Lek, M., Tukiainen, T., Cummings, B.B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J.F., Ing, V.O., Ramm, G., Ardicli, D., Nowak, K.J., Talim, B., Topaloglu, H., Laing, N.G., North, K.N., MacArthur, D.G., Friant, S., Clarke, N.F., Bryson-Richardson, R.J., Bönnemann, C.G., Laporte, J., Cooper, S.T. (2016) Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. American journal of human genetics. 99(5):1086-1105
Sztal, T.E., Ruparelia, A.A., Williams, C., Bryson-Richardson, R.J. (2016) Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish. Journal of visualized experiments : JoVE. (116)
Leber, Y., Ruparelia, A.A., Kirfel, G., van der Ven, P.F., Hoffmann, B., Merkel, R., Bryson-Richardson, R.J., Fürst, D.O. (2016) Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. Human molecular genetics. 25(13):2776-2788
Ruparelia, A.A., Oorschot, V., Ramm, G., Bryson-Richardson, R.J. (2016) FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. Human molecular genetics. 25(11):2131-2142
Ruparelia, A.A., Oorschot, V., Vaz, R., Ramm, G., Bryson-Richardson, R.J. (2014) Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. Acta Neuropathologica. 128(6):821-33
Ruparelia, A.A., Zhao, M., Currie, P.D., and Bryson-Richardson, R.J. (2012) Characterization and Investigation of zebrafish models of Filamin related myofibrillar myopathy. Human molecular genetics. 21(18):4073-4083

NON-ZEBRAFISH PUBLICATIONS