Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

Bằng Viana, Gustavo M., Priestman, David A., Platt, Frances M., Khan, Shaukat, Tomatsu, Shunji, Pshezhetsky, Alexey V.
Xuất bản năm J Clin Med (2020)

A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

Bằng Paton, Leigh, Bitoun, Emmanuelle, Kenyon, Janet, Priestman, David A., Oliver, Peter L., Edwards, Benjamin, Platt, Frances M., Davies, Kay E.
Được phát hành 2014

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

Bằng Huebecker, Mylene, Moloney, Elizabeth B., van der Spoel, Aarnoud C., Priestman, David A., Isacson, Ole, Hallett, Penelope J., Platt, Frances M.
Xuất bản năm Mol Neurodegener (2019)

Correction to: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

Bằng Huebecker, Mylene, Moloney, Elizabeth B., van der Spoel, Aarnoud C., Priestman, David A., Isacson, Ole, Hallett, Penelope J., Platt, Frances M.
Xuất bản năm Mol Neurodegener (2020)

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain

Bằng Hallett, Penelope J., Huebecker, Mylene, Brekk, Oeystein R., Moloney, Elizabeth B., Rocha, Emily M., Priestman, David A., Platt, Frances M., Isacson, Ole
Xuất bản năm Neurobiol Aging (2018)

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes

Bằng Massaro, Giulia, Hughes, Michael P, Whaler, Sammie M, Wallom, Kerri-Lee, Priestman, David A, Platt, Frances M, Waddington, Simon N, Rahim, Ahad A
Xuất bản năm Hum Mol Genet (2020)

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

Bằng Henriques, Alexandre, Huebecker, Mylene, Blasco, Hélène, Keime, Céline, Andres, Christian R., Corcia, Philippe, Priestman, David A., Platt, Frances M., Spedding, Michael, Loeffler, Jean-Philippe
Xuất bản năm Sci Rep (2017)

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Bằng Somogyi, Aleksandra, Petcherski, Anton, Beckert, Benedikt, Huebecker, Mylene, Priestman, David A., Banning, Antje, Cotman, Susan L., Platt, Frances M., Ruonala, Mika O., Tikkanen, Ritva
Xuất bản năm Int J Mol Sci (2018)

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

Bằng Brekk, Oeystein R., Korecka, Joanna A., Crapart, Cecile C., Huebecker, Mylene, MacBain, Zachary K., Rosenthal, Sara Ann, Sena-Esteves, Miguel, Priestman, David A., Platt, Frances M., Isacson, Ole, Hallett, Penelope J.
Xuất bản năm Acta Neuropathol Commun (2020)

Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals

Bằng Speak, Anneliese O., Salio, Mariolina, Neville, David C. A., Fontaine, Josette, Priestman, David A., Platt, Nick, Heare, Tanya, Butters, Terry D., Dwek, Raymond A., Trottein, Francois, Exley, Mark A., Cerundolo, Vincenzo, Platt, Frances M.
Được phát hành 2007

TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells

Bằng Paget, Christophe, Deng, Shenglou, Soulard, Daphnée, Priestman, David A., Speca, Silvia, von Gerichten, Johanna, Speak, Anneliese O., Saroha, Ashish, Pewzner-Jung, Yael, Futerman, Anthony H., Mallevaey, Thierry, Faveeuw, Christelle, Gu, Xiaobo, Platt, Frances M., Sandhoff, Roger, Trottein, François
Xuất bản năm PLoS Biol (2019)

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

Bằng Henriques, Alexandre, Croixmarie, Vincent, Priestman, David A., Rosenbohm, Angela, Dirrig-Grosch, Sylvie, D'Ambra, Eleonora, Huebecker, Mylene, Hussain, Ghulam, Boursier-Neyret, Claire, Echaniz-Laguna, Andoni, Ludolph, Albert C., Platt, Frances M., Walther, Bernard, Spedding, Michael, Loeffler, Jean-Philippe, Gonzalez De Aguilar, Jose-Luis
Xuất bản năm Hum Mol Genet (2015)

Molecular basis for a new bovine model of Niemann-Pick type C disease

Bằng Woolley, Shernae A., Tsimnadis, Emily R., Lenghaus, Cor, Healy, Peter J., Walker, Keith, Morton, Andrew, Khatkar, Mehar S., Elliott, Annette, Kaya, Ecem, Hoerner, Clarisse, Priestman, David A., Shepherd, Dawn, Platt, Frances M., Porebski, Ben T., Willet, Cali E., O’Rourke, Brendon A., Tammen, Imke
Xuất bản năm PLoS One (2020)

An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

Bằng Clark, Alex J., Kugathasan, Umaiyal, Baskozos, Georgios, Priestman, David A., Fugger, Nadine, Lone, Museer A., Othman, Alaa, Chu, Ka Hing, Blesneac, Iulia, Wilson, Emma R., Laurà, Matilde, Kalmar, Bernadett, Greensmith, Linda, Hornemann, Thorsten, Platt, Frances M., Reilly, Mary M., Bennett, David L.
Xuất bản năm Cell Rep Med (2021)

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

Bằng 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
Xuất bản năm Sci Rep (2017)

Heat Shock Protein-based therapy as a potential candidate for treating sphingolipidoses

Bằng 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.
Xuất bản năm Sci Transl Med (2016)

Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells

Bằng Bedard, Melissa, Shrestha, Dilip, Priestman, David A., Wang, Yuting, Schneider, Falk, Matute, Juan D., Iyer, Shankar S., Gileadi, Uzi, Prota, Gennaro, Kandasamy, Matheswaran, Veerapen, Natacha, Besra, Gurdyal, Fritzsche, Marco, Zeissig, Sebastian, Shevchenko, Andrej, Christianson, John C., Platt, Frances M., Eggeling, Christian, Blumberg, Richard S., Salio, Mariolina, Cerundolo, Vincenzo
Xuất bản năm Proc Natl Acad Sci U S A (2019)

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Bằng Harlalka, Gaurav V., Lehman, Anna, Chioza, Barry, Baple, Emma L., Maroofian, Reza, Cross, Harold, Sreekantan-Nair, Ajith, Priestman, David A., Al-Turki, Saeed, McEntagart, Meriel E., Proukakis, Christos, Royle, Louise, Kozak, Radoslaw P., Bastaki, Laila, Patton, Michael, Wagner, Karin, Coblentz, Roselyn, Price, Joy, Mezei, Michelle, Schlade-Bartusiak, Kamilla, Platt, Frances M., Hurles, Matthew E., Crosby, Andrew H.
Được phát hành 2013

Fetal gene therapy for neurodegenerative disease of infants

Bằng 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.
Xuất bản năm Nat Med (2018)