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D. Priestman

Nature Genetics, Analytical Biochemistry, Proceedings of the National Academy of Sciences of the United States of America, Science Translational Medicine, Brain : a journal of neurology, Nature Network Boston, Molecular Neurodegeneration, Journal of Inherited Metabolic Disease, Scientific Reports, Human Molecular Genetics Show more
10
Role
Title
Level Year L/R
🐜 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
16 auth. M. Simpson, H. Cross, C. Proukakis, D. Priestman, D. C. Neville, G. Reinkensmeier, Heng Wang, M. Wiznitzer, Kay Gurtz, Argyro Verganelaki, ... A. Pryde, M. Patton, R. Dwek, T. Butters, F. Platt, A. Crosby 		8 2004
8
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🐜 Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling.
8 auth. D. C. Neville, Virginie Coquard, D. Priestman, Danielle Te Vruchte, D. Sillence, R. Dwek, ... F. Platt, T. Butters 		7 2004
7
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🐜 Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals
13 auth. A. Speak, M. Salio, D. C. Neville, J. Fontaine, D. Priestman, N. Platt, Tanya Heare, T. Butters, R. Dwek, F. Trottein, ... M. Exley, V. Cerundolo, F. Platt 		7 2007
7
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🐜 Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses
20 auth. T. Kirkegaard, James Gray, D. Priestman, Kerri-Lee Wallom, J. Atkins, O. D. Olsen, A. Klein, S. Drndarski, Nikolaj H. T. Petersen, L. Ingemann, ... David A Smith, Lauren Morris, Claus Bornæs, S. H. Jørgensen, Ian M. Williams, A. Hinsby, C. Arenz, D. Begley, M. Jäättelä, F. Platt 		7 2016
7
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🐜 Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
23 auth. G. Harlalka, A. Lehman, B. Chioza, E. Baple, Reza Maroofian, H. Cross, A. Sreekantan-Nair, D. Priestman, S. Al-Turki, M. McEntagart, ... C. Proukakis, L. Royle, R. P. Kozak, L. Bastaki, M. Patton, K. Wagner, R. Coblentz, Joy Price, M. Mezei, Kamilla Schlade-Bartusiak, F. Platt, M. Hurles, A. Crosby 		6 2013
6
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🐜 Fetal gene therapy for neurodegenerative disease of infants
22 auth. G. Massaro, C. Mattar, A. Wong, E. Sirka, S. Buckley, B. Herbert, S. Karlsson, D. Perocheau, D. Burke, S. Heales, ... A. Richard-Londt, S. Brandner, Mylene Huebecker, D. Priestman, F. Platt, K. Mills, A. Biswas, J. Cooper, J. Chan, Seng H. Cheng, S. Waddington, A. Rahim 		6 2018
6
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🐜 Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease
7 auth. Mylene Huebecker, E. Moloney, A. C. van der Spoel, D. Priestman, O. Isacson, P. Hallett, ... F. Platt 		6 2019
6
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🐜 Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
16 auth. F. Platt, M. Jeyakumar, U. Andersson, D. Priestman, R. Dwek, T. Butters, T. Cox, R. Lachmann, C. Hollak, J. Aerts, ... S. Weely, M. Hřebíček, C. Moyses, I. Gow, D. Elstein, A. Zimran 		6 2001
6
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🐜 A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
19 auth. A. Tharkeshwar, J. Trekker, Wendy Vermeire, Jarne Pauwels, Ragna Sannerud, D. Priestman, Danielle Te Vruchte, Katlijn Vints, P. Baatsen, J. Decuypere, ... Huiqi Lu, Shaun Martin, P. Vangheluwe, J. Swinnen, L. Lagae, Francis Impens, F. Platt, K. Gevaert, W. Annaert 		6 2017
6
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🐜 Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase
16 auth. A. Henriques, Vincent Croixmarie, D. Priestman, A. Rosenbohm, S. Dirrig‐Grosch, Eleonora D’Ambra, Mylene Huebecker, G. Hussain, C. Boursier-Neyret, A. Echaniz-Laguna, ... A. Ludolph, F. Platt, B. Walther, M. Spedding, J. Loeffler, J. González de Aguilar 		6 2015
6
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