TY - STD TI - Desnick RJ, Ioannou Y, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3733–74 ID - ref1 ER - TY - JOUR AU - Askari, H. AU - Kaneski, C. R. AU - Semino-Mora, C. AU - Desai, P. AU - Ang, A. AU - Kleiner, D. E. PY - 2007 DA - 2007// TI - Cellular and tissue localization of globotriaosylceramide in Fabry disease JO - Virchows Arch VL - 451 UR - https://doi.org/10.1007/s00428-007-0468-6 DO - 10.1007/s00428-007-0468-6 ID - Askari2007 ER - TY - STD TI - Merscher S, Fornoni A. Podocyte pathology and nephropathy—sphingolipids in glomerular diseases. Front. Endocrinol. (Lausanne). 2014; 5:127. ID - ref3 ER - TY - JOUR AU - Swiatecka-Urban, A. PY - 2013 DA - 2013// TI - Membrane trafficking in podocyte health and disease JO - Pediatr Nephrol VL - 28 UR - https://doi.org/10.1007/s00467-012-2281-y DO - 10.1007/s00467-012-2281-y ID - Swiatecka-Urban2013 ER - TY - JOUR AU - Rombach, S. M. AU - Dekker, N. AU - Bouwman, M. G. AU - Linthorst, G. E. AU - Zwinderman, A. H. AU - Wijburg, F. A. PY - 2010 DA - 2010// TI - Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease JO - Biochim Biophys Acta VL - 1802 UR - https://doi.org/10.1016/j.bbadis.2010.05.003 DO - 10.1016/j.bbadis.2010.05.003 ID - Rombach2010 ER - TY - JOUR AU - Altarescu, G. AU - Moore, D. F. AU - Pursley, R. AU - Campia, U. AU - Goldstein, S. AU - Bryant, M. PY - 2001 DA - 2001// TI - Enhanced endothelium-dependent vasodilation in Fabry disease JO - Stroke VL - 32 UR - https://doi.org/10.1161/01.STR.32.7.1559 DO - 10.1161/01.STR.32.7.1559 ID - Altarescu2001 ER - TY - JOUR AU - Lloyd-Evans, E. AU - Pelled, D. AU - Riebeling, C. AU - Bodennec, J. AU - de-Morgan, A. AU - Waller, H. PY - 2003 DA - 2003// TI - Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms JO - J Biol Chem VL - 278 UR - https://doi.org/10.1074/jbc.M300212200 DO - 10.1074/jbc.M300212200 ID - Lloyd-Evans2003 ER - TY - JOUR AU - Pelled, D. AU - Lloyd-Evans, E. AU - Riebeling, C. AU - Jeyakumar, M. AU - Platt, F. M. AU - Futerman, A. H. PY - 2003 DA - 2003// TI - Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+ -ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin JO - J Biol Chem VL - 278 UR - https://doi.org/10.1074/jbc.M302964200 DO - 10.1074/jbc.M302964200 ID - Pelled2003 ER - TY - JOUR AU - Biancini, G. B. AU - Jacques, C. E. AU - Hammerschmidt, T. AU - Souza, H. M. AU - Donida, B. AU - Deon, M. PY - 2016 DA - 2016// TI - Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy JO - Clin Chim Acta VL - 461 UR - https://doi.org/10.1016/j.cca.2016.07.016 DO - 10.1016/j.cca.2016.07.016 ID - Biancini2016 ER - TY - JOUR AU - Biancini, G. B. AU - Vanzin, C. S. AU - Rodrigues, D. B. AU - Deon, M. AU - Ribas, G. S. AU - Barschak, A. G. PY - 2012 DA - 2012// TI - Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy JO - Biochim Biophys Acta VL - 1822 UR - https://doi.org/10.1016/j.bbadis.2011.11.001 DO - 10.1016/j.bbadis.2011.11.001 ID - Biancini2012 ER - TY - JOUR AU - Aerts, J. M. AU - Groener, J. E. AU - Kuiper, S. AU - Donker-Koopman, W. E. AU - Strijland, A. AU - Ottenhoff, R. PY - 2008 DA - 2008// TI - Elevated globotriaosylsphingosine is a hallmark of Fabry disease JO - Proc Natl Acad Sci USA. VL - 105 UR - https://doi.org/10.1073/pnas.0712309105 DO - 10.1073/pnas.0712309105 ID - Aerts2008 ER - TY - JOUR AU - Trimarchi, H. PY - 2016 DA - 2016// TI - The kidney in Fabry disease. More than mere sphyngolipids overload JO - J Inborn Errors Metab Screen. VL - 4 UR - https://doi.org/10.1177/2326409816648169 DO - 10.1177/2326409816648169 ID - Trimarchi2016 ER - TY - JOUR AU - Lee, M. H. AU - Choi, E. N. AU - Jeon, Y. J. AU - Jung, S. -. C. PY - 2012 DA - 2012// TI - Possible role of transforming growth factor-β1 and vascular endothelial growth factor in Fabry disease nephropathy JO - Int J Mol Med VL - 30 ID - Lee2012 ER - TY - JOUR AU - Sanchez-Niño, M. D. AU - Carpio, D. AU - Sanz, A. B. AU - Ruiz-Ortega, M. AU - Mezzano, S. AU - Ortiz, A. PY - 2015 DA - 2015// TI - Lyso-Gb3 activates Notch1 in human podocytes JO - Hum Mol Genet VL - 24 UR - https://doi.org/10.1093/hmg/ddv291 DO - 10.1093/hmg/ddv291 ID - Sanchez-Niño2015 ER - TY - JOUR AU - Liebau, M. C. AU - Braun, F. AU - Höpker, K. AU - Weitbrecht, C. AU - Bartels, V. AU - Müller, R. -. U. PY - 2013 DA - 2013// TI - Dysregulated autophagy contributes to podocyte damage in Fabry’s disease JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0063506 DO - 10.1371/journal.pone.0063506 ID - Liebau2013 ER - TY - JOUR AU - Trimarchi, H. AU - Karl, A. AU - Raña, M. S. AU - Forrester, M. AU - Pomeranz, V. AU - Lombi, F. PY - 2013 DA - 2013// TI - Initially nondiagnosed Fabry’s disease when electron microscopy is lacking: the continuing story of focal and segmental glomerulosclerosis JO - Case Rep Nephrol Urol. VL - 3 UR - https://doi.org/10.1159/000351516 DO - 10.1159/000351516 ID - Trimarchi2013 ER - TY - JOUR AU - Sanchez-Niño, M. D. AU - Sanz, A. B. AU - Carrasco, S. AU - Saleem, M. A. AU - Mathieson, P. W. AU - Valdivielso, J. M. PY - 2011 DA - 2011// TI - Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy JO - Nephrol Dial Transplant VL - 26 UR - https://doi.org/10.1093/ndt/gfq306 DO - 10.1093/ndt/gfq306 ID - Sanchez-Niño2011 ER - TY - JOUR AU - Fiorina, P. AU - Vergani, A. AU - Bassi, R. AU - Niewczas, M. A. AU - Altintas, M. M. AU - Pezzolesi, M. G. PY - 2014 DA - 2014// TI - Role of podocyte B7-1 in diabetic nephropathy JO - J Am Soc Nephrol VL - 25 UR - https://doi.org/10.1681/ASN.2013050518 DO - 10.1681/ASN.2013050518 ID - Fiorina2014 ER - TY - JOUR AU - Linsley, P. S. AU - Ledbetter, J. A. PY - 1993 DA - 1993// TI - The role of the CD28 receptor during T cell responses to antigen JO - Annu Rev Immunol VL - 11 UR - https://doi.org/10.1146/annurev.iy.11.040193.001203 DO - 10.1146/annurev.iy.11.040193.001203 ID - Linsley1993 ER - TY - JOUR AU - Wu, Q. AU - Jinde, K. AU - Endoh, M. AU - Sakai, H. PY - 2004 DA - 2004// TI - Clinical significance of costimulatory molecules CD80/CD86 expression in IgA nephropathy JO - Kidney Int VL - 65 UR - https://doi.org/10.1111/j.1523-1755.2004.00477.x DO - 10.1111/j.1523-1755.2004.00477.x ID - Wu2004 ER - TY - JOUR AU - Trimarchi, H. PY - 2015 DA - 2015// TI - Abatacept and glomerular diseases: the open road for the second signal as a new target is settled down JO - Recent Pat Endocr Metab Immune Drug Discov VL - 9 UR - https://doi.org/10.2174/1872214809666150302104542 DO - 10.2174/1872214809666150302104542 ID - Trimarchi2015 ER - TY - JOUR AU - Hara, M. AU - Yanagihara, T. AU - Kihara, I. PY - 2007 DA - 2007// TI - Cumulative excretion of urinary podocytes reflects disease progression in IgA nephropathy and Schönlein–Henoch purpura nephritis JO - Clin J Am Soc Nephrol. VL - 2 UR - https://doi.org/10.2215/CJN.01470506 DO - 10.2215/CJN.01470506 ID - Hara2007 ER - TY - JOUR AU - Yu, D. AU - Petermann, A. AU - Kunter, U. AU - Rong, S. AU - Shankland, S. J. AU - Floege, J. PY - 2005 DA - 2005// TI - Urinary podocyte loss is a more specific marker of ongoing glomerular damage than proteinuria JO - J Am Soc Nephrol VL - 16 UR - https://doi.org/10.1681/ASN.2005020159 DO - 10.1681/ASN.2005020159 ID - Yu2005 ER - TY - JOUR AU - Trimarchi, H. AU - Canzonieri, R. AU - Schiel, A. AU - Politei, J. AU - Stern, A. AU - Andrews, J. PY - 2016 DA - 2016// TI - Podocyturia is significantly elevated in untreated vs treated Fabry adult patients JO - J Nephrol. ID - Trimarchi2016 ER - TY - JOUR AU - Sabino, A. R. AU - Teixeira, V. P. AU - Nishida, S. K. AU - Sass, N. AU - Mansur, J. B. AU - Kirsztajn, G. M. PY - 2013 DA - 2013// TI - Detection of podocyturia in patients with lupus nephritis JO - J Bras Nefrol VL - 35 UR - https://doi.org/10.5935/0101-2800.20130043 DO - 10.5935/0101-2800.20130043 ID - Sabino2013 ER - TY - JOUR AU - Sanchez-Niño, M. -. D. AU - Bozic, M. AU - Córdoba-Lanús, E. AU - Valcheva, P. AU - Gracia, O. AU - Ibarz, M. PY - 2012 DA - 2012// TI - Beyond proteinuria: VDR activation reduces renal inflammation in experimental diabetic nephropathy JO - Am J Physiol Renal Physiol. VL - 302 UR - https://doi.org/10.1152/ajprenal.00090.2011 DO - 10.1152/ajprenal.00090.2011 ID - Sanchez-Niño2012 ER - TY - JOUR AU - Sanchez-Niño, M. D. AU - Sanz, A. B. AU - Ihalmo, P. AU - Lassila, M. AU - Holthofer, H. AU - Mezzano, S. PY - 2009 DA - 2009// TI - The MIF receptor CD74 in diabetic podocyte injury JO - J Am Soc Nephrol VL - 20 UR - https://doi.org/10.1681/ASN.2008020194 DO - 10.1681/ASN.2008020194 ID - Sanchez-Niño2009 ER - TY - JOUR AU - Reiser, J. AU - Gersdorff, G. AU - Loos, M. AU - Oh, J. AU - Asanuma, K. AU - Giardino, L. PY - 2004 DA - 2004// TI - Induction of B7-1 in podocytes is associated with nephrotic syndrome JO - J Clin Invest. VL - 113 UR - https://doi.org/10.1172/JCI20402 DO - 10.1172/JCI20402 ID - Reiser2004 ER - TY - JOUR AU - Ito, S. AU - Ogura, M. AU - Kamei, K. AU - Matsuoka, K. AU - Warnock, D. G. PY - 2016 DA - 2016// TI - Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta JO - Pediatr Nephrol VL - 31 UR - https://doi.org/10.1007/s00467-016-3387-4 DO - 10.1007/s00467-016-3387-4 ID - Ito2016 ER - TY - JOUR AU - Tøndel, C. AU - Bostad, L. AU - Larsen, K. K. AU - Hirth, A. AU - Vikse, B. E. AU - Houge, G. PY - 2013 DA - 2013// TI - Agalsidase benefits renal histology in young patients with Fabry disease JO - J Am Soc Nephrol VL - 24 UR - https://doi.org/10.1681/ASN.2012030316 DO - 10.1681/ASN.2012030316 ID - Tøndel2013 ER - TY - JOUR AU - Suzuki, H. AU - Kiryluk, K. AU - Novak, J. AU - Moldoveanu, Z. AU - Herr, A. B. AU - Renfrow, M. B. PY - 2011 DA - 2011// TI - The pathophysiology of IgA nephropathy JO - J Am Soc Nephrol VL - 22 UR - https://doi.org/10.1681/ASN.2011050464 DO - 10.1681/ASN.2011050464 ID - Suzuki2011 ER - TY - JOUR AU - Trimarchi, H. PY - 2015 DA - 2015// TI - Primary focal and segmental glomerulosclerosis. Why are there pieces still hidden in this puzzle? JO - Eur Med J Nephrol. VL - 3 ID - Trimarchi2015 ER - TY - JOUR AU - Yu, C. -. C. AU - Fornoni, A. AU - Weins, A. AU - Hakroush, S. AU - Maiguel, D. AU - Sageshima, J. PY - 2013 DA - 2013// TI - Abatacept in B7-1-positive proteinuric kidney disease JO - N Engl J Med VL - 369 UR - https://doi.org/10.1056/NEJMoa1304572 DO - 10.1056/NEJMoa1304572 ID - Yu2013 ER - TY - JOUR AU - Reiser, J. AU - Alachkar, N. PY - 2014 DA - 2014// TI - Proteinuria: abate or applaud abatacept in proteinuric kidney disease? JO - Nat Rev Nephrol. VL - 10 UR - https://doi.org/10.1038/nrneph.2013.276 DO - 10.1038/nrneph.2013.276 ID - Reiser2014 ER - TY - JOUR AU - Novelli, R. AU - Gagliardini, E. AU - Ruggiero, B. AU - Benigni, A. AU - Remuzzi, G. PY - 2016 DA - 2016// TI - Any value of podocyte B7-1 as a biomarker in human MCD and FSGS? JO - Am J Physiol Renal Physiol. VL - 310 UR - https://doi.org/10.1152/ajprenal.00510.2015 DO - 10.1152/ajprenal.00510.2015 ID - Novelli2016 ER - TY - JOUR AU - Li, C. AU - Ge, Y. AU - Dworkin, L. AU - Peng, A. AU - Gong, R. PY - 2016 DA - 2016// TI - The β isoform of GSK3 mediates podocyte autonomous injury in proteinuric glomerulopathy JO - J Pathol. VL - 239 UR - https://doi.org/10.1002/path.4692 DO - 10.1002/path.4692 ID - Li2016 ER - TY - JOUR AU - Chen, K. -. H. AU - Chien, Y. AU - Wang, K. -. L. AU - Leu, H. -. B. AU - Hsiao, C. -. Y. AU - Lai, Y. -. H. PY - 2015 DA - 2015// TI - Evaluation of proinflammatory prognostic biomarkers for fabry cardiomyopathy with enzyme replacement therapy JO - Can J Cardiol. ID - Chen2015 ER - TY - JOUR AU - Utsumi, K. AU - Itoh, K. AU - Kase, R. AU - Shimmoto, M. AU - Yamamoto, N. AU - Katagiri, Y. PY - 1999 DA - 1999// TI - Urinary excretion of the vitronectin receptor (integrin alpha V beta 3) in patients with Fabry disease JO - Clin Chim Acta VL - 279 UR - https://doi.org/10.1016/S0009-8981(98)00169-7 DO - 10.1016/S0009-8981(98)00169-7 ID - Utsumi1999 ER -