Search Results - "Priestman, David"

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease by Huebecker, Mylene, Moloney, Elizabeth B, van der Spoel, Aarnoud C, Priestman, David A, Isacson, Ole, Hallett, Penelope J, Platt, Frances M

“…Haploinsufficiency in the Gaucher disease GBA gene, which encodes the lysosomal glucocerebrosidase GBA, and ageing represent major risk factors for developing…”
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Fetal gene therapy for neurodegenerative disease of infants by 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.

“…For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against early, irreversible and lethal pathological change. To explore…”
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Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain by Hallett, Penelope J., Huebecker, Mylene, Brekk, Oeystein R., Moloney, Elizabeth B., Rocha, Emily M., Priestman, David A., Platt, Frances M., Isacson, Ole

“…Aging is the predominant risk factor for both genetic and sporadic Parkinson's disease (PD). The majority of PD cases are nonfamilial, and the connection…”
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Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses by 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

“…Lysosomal storage diseases (LSDs) often manifest with severe systemic and central nervous system (CNS) symptoms. The existing treatment options are limited and…”
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TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells by 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

“…CD1d-restricted invariant natural killer T (iNKT) cells represent a heterogeneous population of lipid-reactive T cells that are involved in many immune…”
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Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis by Henriques, Alexandre, Huebecker, Mylene, Blasco, Hélène, Keime, Céline, Andres, Christian R., Corcia, Philippe, Priestman, David A., Platt, Frances M., Spedding, Michael, Loeffler, Jean-Philippe

“…Recent metabolomic reports connect dysregulation of glycosphingolipids, particularly ceramide and glucosylceramide, to neurodegeneration and to motor unit…”
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A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency by 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

“…Superparamagnetic iron oxide nanoparticles (SPIONs) have mainly been used as cellular carriers for genes and therapeutic products, while their use in…”
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Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase by 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

“…Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset disease characterized by upper and lower motor neuron degeneration, muscle wasting and paralysis…”
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Molecular basis for a new bovine model of Niemann-Pick type C disease by 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

“…Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first…”
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Correction: Molecular basis for a new bovine model of Niemann-Pick type C disease by Woolley, Shernae A, Tsimnadis, Emily R, Lenghaus, Cor, Healy, Peter J, Walker, Keith, Morton, Anthony, 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

“…[This corrects the article DOI: 10.1371/journal.pone.0238697.]…”
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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 by Massaro, Giulia, Hughes, Michael P, Whaler, Sammie M, Wallom, Kerri-Lee, Priestman, David A, Platt, Frances M, Waddington, Simon N, Rahim, Ahad A

“…Abstract Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the…”
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N‑Butyl‑l‑deoxynojirimycin (l‑NBDNJ): Synthesis of an Allosteric Enhancer of α‑Glucosidase Activity for the Treatment of Pompe Disease by D’Alonzo, Daniele, De Fenza, Maria, Porto, Caterina, Iacono, Roberta, Huebecker, Mylene, Cobucci-Ponzano, Beatrice, Priestman, David A., Platt, Frances, Parenti, Giancarlo, Moracci, Marco, Palumbo, Giovanni, Guaragna, Annalisa

“…The highly stereocontrolled de novo synthesis of l-NBDNJ (the unnatural enantiomer of the iminosugar drug Miglustat) and a preliminary evaluation of its…”
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Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells by 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

“…Invariant NKT (iNKT) cells have the unique ability to shape immunity during antitumor immune responses and other forms of sterile and nonsterile inflammation…”
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Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT by Pan, Xuefang, Taherzadeh, Mahsa, Bose, Poulomee, Heon-Roberts, Rachel, Nguyen, Annie L A, Xu, TianMeng, Pará, Camila, Yamanaka, Yojiro, Priestman, David A, Platt, Frances M, Khan, Shaukat, Fnu, Nidhi, Tomatsu, Shunji, Morales, Carlos R, Pshezhetsky, Alexey V

“…The majority of mucopolysaccharidosis IIIC (MPS IIIC) patients have missense variants causing misfolding of heparan sulfate acetyl-CoA:α-glucosaminide…”
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis by HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E

“…Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of…”
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A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids by Durán, Anyelo, Priestman, David A, Las Heras, Macarena, Rebolledo-Jaramillo, Boris, Olguín, Valeria, Calderón, Juan F, Zanlungo, Silvana, Gutiérrez, Jaime, Platt, Frances M, Klein, Andrés D

“…Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases…”
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Glycosphingolipid metabolism and its role in ageing and Parkinson’s disease by Wallom, Kerri-Lee, Fernández-Suárez, María E., Priestman, David A., te Vruchte, Danielle, Huebecker, Mylene, Hallett, Penelope J., Isacson, Ole, Platt, Frances M.

“…It is well established that lysosomal glucocerebrosidase gene ( GBA ) variants are a risk factor for Parkinson’s disease (PD), with increasing evidence…”
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Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels by Vruchte, Danielle, Sturchio, Andrea, Priestman, David A., Tsitsi, Panagiota, Hertz, Ellen, Andréasson, Mattias, Markaki, Ioanna, Wallom, Kerri‐Lee, Platt, Frances, Svenningsson, Per

“…Background Alteration in glycosphingolipids (GSLs) in Parkinson's disease (PD) still needs to be determined. Objectives We evaluated if PD subjects show…”
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Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Somogyi, Aleksandra, Petcherski, Anton, Beckert, Benedikt, Huebecker, Mylene, Priestman, David A, Banning, Antje, Cotman, Susan L, Platt, Frances M, Ruonala, Mika O, Tikkanen, Ritva

“…Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8…”
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Invariant NKT cells metabolically adapt to the acute myeloid leukaemia environment by Stavrou, Victoria, Fultang, Livingstone, Booth, Sarah, De Simone, Daniele, Bartnik, Arekdiusz, Scarpa, Ugo, Gneo, Luciana, Panetti, Silvia, Potluri, Sandeep, Almowaled, Meaad, Barlow, Jonathan, Jankevics, Andris, Lloyd, Gavin, Southam, Andrew, Priestman, David A., Cheng, Paul, Dunn, Warwick, Platt, Frances, Endou, Hitoshi, Craddock, Charles, Keeshan, Karen, Mussai, Francis, De Santo, Carmela

“…Acute myeloid leukaemia (AML) creates an immunosuppressive environment to conventional T cells through Arginase 2 (ARG2)-induced arginine depletion. We…”
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