Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency

• Marcus Keatinge,
• Matthew E. Gegg,
• Lisa Watson,
• Heather Mortiboys,
• Nan Li,
• Mark Dunning,
• Deepak Ailani,
• Hai Bui,
• Astrid van Rens,
• Dirk J. Lefeber,
• Anthony H. V. Schapira,
• Ryan B. MacDonald,
• Oliver Bandmann

Affiliations

Marcus Keatinge

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK

Matthew E. Gegg

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London NW3 2PF, UK

Lisa Watson

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK

Heather Mortiboys

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK

Nan Li

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK

Mark Dunning

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK

Deepak Ailani

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK

Hai Bui

Eli Lilly and Company, Drop Code 1940, Indianapolis, IN 46285, USA

Astrid van Rens

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen NL-6525 GA, The Netherlands

Dirk J. Lefeber

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen NL-6525 GA, The Netherlands

Anthony H. V. Schapira

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London NW3 2PF, UK

Ryan B. MacDonald

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK

Oliver Bandmann

Bateson Centre, Firth Court, University of Sheffield, Western Bank, Sheffield S10 2TN, UK