OBO ID: DOID:3211

Citations

(6 total)

Term: lysosomal storage disease

Sofou, K., Meier, K., Sanderson, L.E., Kaminski, D., Montoliu-Gaya, L., Samuelsson, E., Blomqvist, M., Agholme, L., Gärtner, J., Mühlhausen, C., Darin, N., Barakat, T.S., Schlotawa, L., van Ham, T., Asin Cayuela, J., Sterky, F.H. (2021) Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. EMBO Molecular Medicine. 13(5):e13376

Chen, Z., Luciani, A., Mateos, J.M., Barmettler, G., Giles, R.H., Neuhauss, S.C.F., Devuyst, O. (2019) Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases. Kidney International. 97(6):1150-1163

Kuil, L.E., López Martí, A., Carreras Mascaro, A., van den Bosch, J.C., van den Berg, P., van der Linde, H.C., Schoonderwoerd, K., Ruijter, G.J.G., van Ham, T.J. (2019) Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. Glia. 67(9):1705-1718

Berg, R.D., Levitte, S., O'Sullivan, M.P., O'Leary, S.M., Cambier, C.J., Cameron, J., Takaki, K.K., Moens, C.B., Tobin, D.M., Keane, J., Ramakrishnan, L. (2016) Lysosomal Disorders Drive Susceptibility to Tuberculosis by Compromising Macrophage Migration. Cell. 165:139-152

Flanagan-Steet, H., Matheny, C., Petrey, A., Parker, J., Steet, R. (2016) Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. Biochimica et biophysica acta. General subjects. 1860(9):1845-53

Staal, F., Spaink, H., Fibbe, W.E. (2016) Visualizing human Hematopoietic stem cell trafficking in vivo using a zebrafish xenograft model. Stem cells and development. 25(4):360-5