E
Emyr Lloyd-Evans
Researcher at Cardiff University
Publications - 63
Citations - 3632
Emyr Lloyd-Evans is an academic researcher from Cardiff University. The author has contributed to research in topics: Lysosomal storage disease & Biology. The author has an hindex of 22, co-authored 48 publications receiving 3159 citations. Previous affiliations of Emyr Lloyd-Evans include National Institutes of Health & University of Oxford.
Papers
More filters
PatentDOI
Substrate reduction therapy
TL;DR: In this article, an inhibitor of sphingolipid biosynthesis for use in the treatment of a disease which has a secondary Niemann-Pick type C disease like cellular phenotype was presented.
Journal ArticleDOI
Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.
TL;DR: A summary of the current knowledge on the role of lysosomal Ca(2+) signaling in the pathogenesis of LSDs is provided, finding that Chediak-Higashi Syndrome cells have been reported to have enhanced lysOSomal Ca (2+) uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca( 2+) channel.
Journal ArticleDOI
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis
Elena Elliot-Smith,Anneliese O. Speak,Emyr Lloyd-Evans,David Smith,Aarnoud C. van der Spoel,Mylvaganam Jeyakumar,Terry D. Butters,Raymond A. Dwek,Alessandra d'Azzo,Frances M. Platt +9 more
TL;DR: Functional improvement was greatest with NB-DNJ treatment which may potentially be caused by novel anti-inflammatory properties of NB- DNJ, and the efficacy and tolerability of NB and NB-DGJ in the beta-galactosidase knockout mouse was compared.
Journal ArticleDOI
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
Uma Chandrachud,Mathew W. Walker,Alexandra M. Simas,Sasja Heetveld,Anton Petcherski,Madeleine C Klein,Hye Jin Oh,Pavlina Wolf,Wen-Ning Zhao,Stephanie Norton,Stephen J. Haggarty,Emyr Lloyd-Evans,Susan L. Cotman +12 more
TL;DR: An important role for the CLN3 protein in intracellular Ca2+ handling and in autophagic pathway flux is supported and a proof-of-concept is established for the application of drug screening to Batten disease research.
Journal ArticleDOI
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Frances M. Platt,Christopher A. Wassif,Alexandria Colaco,Andrea Dardis,Emyr Lloyd-Evans,Bruno Bembi,Forbes D. Porter +6 more
TL;DR: A surprising finding is not only shedding light on details of cellular cholesterol homeostasis but also suggesting novel approaches to therapy.