Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Platt, Frances M., Boland, Barry, van der Spoel, Aarnoud C.
Published in The Journal of cell biology (26.11.2012)
Published in The Journal of cell biology (26.11.2012)
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Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases
Vitner, Einat B., Platt, Frances M., Futerman, Anthony H.
Published in The Journal of biological chemistry (02.07.2010)
Published in The Journal of biological chemistry (02.07.2010)
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Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C
Roney, Joseph C., Li, Sunan, Farfel-Becker, Tamar, Huang, Ning, Sun, Tao, Xie, Yuxiang, Cheng, Xiu-Tang, Lin, Mei-Yao, Platt, Frances M., Sheng, Zu-Hang
Published in Developmental cell (17.05.2021)
Published in Developmental cell (17.05.2021)
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Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease
Huebecker, Mylene, Moloney, Elizabeth B, van der Spoel, Aarnoud C, Priestman, David A, Isacson, Ole, Hallett, Penelope J, Platt, Frances M
Published in Molecular neurodegeneration (08.11.2019)
Published in Molecular neurodegeneration (08.11.2019)
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Fetal gene therapy for neurodegenerative disease of infants
Massaro, Giulia, Mattar, Citra N. Z., Wong, Andrew M. S., Sirka, Ernestas, Buckley, Suzanne M. K., Herbert, Bronwen R., Karlsson, Stefan, Perocheau, Dany P., Burke, Derek, Heales, Simon, Richard-Londt, Angela, Brandner, Sebastian, Huebecker, Mylene, Priestman, David A., Platt, Frances M., Mills, Kevin, Biswas, Arijit, Cooper, Jonathan D., Chan, Jerry K. Y., Cheng, Seng H., Waddington, Simon N., Rahim, Ahad A.
Published in Nature medicine (01.09.2018)
Published in Nature medicine (01.09.2018)
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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Wassif, Christopher A., Cross, Joanna L., Iben, James, Sanchez-Pulido, Luis, Cougnoux, Antony, Platt, Frances M., Ory, Daniel S., Ponting, Chris P., Bailey-Wilson, Joan E., Biesecker, Leslie G., Porter, Forbes D.
Published in Genetics in medicine (01.01.2016)
Published in Genetics in medicine (01.01.2016)
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Journal Article
RIPK3 as a potential therapeutic target for Gaucher's disease
Vitner, Einat B, Salomon, Ran, Farfel-Becker, Tamar, Meshcheriakova, Anna, Ali, Mohammad, Klein, Andrés D, Platt, Frances M, Cox, Timothy M, Futerman, Anthony H
Published in Nature medicine (01.02.2014)
Published in Nature medicine (01.02.2014)
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Journal Article
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses
Kirkegaard, Thomas, Gray, James, Priestman, David A, Wallom, Kerri-Lee, Atkins, Jennifer, Olsen, Ole Dines, Klein, Alexander, Drndarski, Svetlana, Petersen, Nikolaj H T, Ingemann, Linda, Smith, David A, Morris, Lauren, Bornæs, Claus, Jørgensen, Signe Humle, Williams, Ian, Hinsby, Anders, Arenz, Christoph, Begley, David, Jäättelä, Marja, Platt, Frances M
Published in Science translational medicine (07.09.2016)
Published in Science translational medicine (07.09.2016)
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Journal Article
Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein
Priyanka, Pragya, Parsons, Thomas B., Miller, Antonia, Platt, Frances M., Fairbanks, Antony J.
Published in Angewandte Chemie International Edition (11.04.2016)
Published in Angewandte Chemie International Edition (11.04.2016)
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Journal Article
Intracellular sphingosine releases calcium from lysosomes
Höglinger, Doris, Haberkant, Per, Aguilera-Romero, Auxiliadora, Riezman, Howard, Porter, Forbes D, Platt, Frances M, Galione, Antony, Schultz, Carsten
Published in eLife (27.11.2015)
Published in eLife (27.11.2015)
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Journal Article
GM1 Gangliosidosis-A Mini-Review
Nicoli, Elena-Raluca, Annunziata, Ida, d'Azzo, Alessandra, Platt, Frances M, Tifft, Cynthia J, Stepien, Karolina M
Published in Frontiers in genetics (03.09.2021)
Published in Frontiers in genetics (03.09.2021)
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Journal Article
A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
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
Published in Scientific reports (30.01.2017)
Published in Scientific reports (30.01.2017)
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GM1 ganglioside-independent intoxication by Cholera toxin
Cervin, Jakob, Wands, Amberlyn M, Casselbrant, Anna, Wu, Han, Krishnamurthy, Soumya, Cvjetkovic, Aleksander, Estelius, Johanna, Dedic, Benjamin, Sethi, Anirudh, Wallom, Kerri-Lee, Riise, Rebecca, Bäckström, Malin, Wallenius, Ville, Platt, Frances M, Lebens, Michael, Teneberg, Susann, Fändriks, Lars, Kohler, Jennifer J, Yrlid, Ulf
Published in PLoS pathogens (12.02.2018)
Published in PLoS pathogens (12.02.2018)
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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S]
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.
Published in Journal of lipid research (01.07.2011)
Published in Journal of lipid research (01.07.2011)
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