Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

Autor te Vruchte, Danielle, Jeans, Aruna, Platt, Frances M., Sillence, Daniel John
Vydáno 2010

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Autor Giese, Anne-Katrin, Mascher, Hermann, Grittner, Ulrike, Eichler, Sabrina, Kramp, Guido, Lukas, Jan, te Vruchte, Danielle, Al Eisa, Nada, Cortina-Borja, Mario, Porter, Forbes D, Platt, Frances M, Rolfs, Arndt
Vydáno v Orphanet J Rare Dis (2015)

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

Autor Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, te Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Vydáno v FEBS Lett (2016)

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Autor Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Vydáno v Orphanet J Rare Dis (2018)

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

Autor Jiang, Xuntian, Sidhu, Rohini, Porter, Forbes D., Yanjanin, Nicole M., Speak, Anneliese O., te Vruchte, Danielle Taylor, Platt, Frances M., Fujiwara, Hideji, Scherrer, David E., Zhang, Jessie, Dietzen, Dennis J., Schaffer, Jean E., Ory, Daniel S.
Vydáno 2011

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency

Autor Tharkeshwar, Arun Kumar, Trekker, Jesse, Vermeire, Wendy, Pauwels, Jarne, Sannerud, Ragna, Priestman, David A., te Vruchte, Danielle, Vints, Katlijn, Baatsen, Pieter, Decuypere, Jean-Paul, Lu, Huiqi, Martin, Shaun, Vangheluwe, Peter, Swinnen, Johannes V., Lagae, Liesbet, Impens, Francis, Platt, Frances M., Gevaert, Kris, Annaert, Wim
Vydáno v Sci Rep (2017)

Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

Autor Speak, Anneliese O, Platt, Nicholas, Salio, Mariolina, te Vruchte, Danielle Taylor, Smith, David A, Shepherd, Dawn, Veerapen, Natacha, Besra, Gurdyal, Yanjanin, Nicole M., Simmons, Louise, Imrie, Jackie, Wraith, James E., Lachmann, Robin, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Hendriksz, Christian J, Porter, Forbes D, Cerundolo, Vincenzo, Platt, Frances M
Vydáno 2012

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

Autor Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, Platt, Frances M.
Vydáno 2014

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

Autor te Vruchte, Danielle, Speak, Anneliese O., Wallom, Kerri L., Al Eisa, Nada, Smith, David A., Hendriksz, Christian J., Simmons, Louise, Lachmann, Robin H., Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M., Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S., Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J., Wraith, James E., Porter, Forbes D., Cortina-Borja, Mario, Platt, Frances M.
Vydáno 2014