Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman, +12

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsHomozygous Loss-of-function MutationNeuroscience +5

Prevention of Lysosomal Storage in Tay-Sachs Mice Treated with <i>N</i> -Butyldeoxynojirimycin

Frances M. Platt, Gabrielle R. Neises, Gabriele Reinkensmeier, +6

Science

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Robin Lachmann, Daniëlle te Vruchte, Emyr Lloyd‐Evans, +7

Neurobiology of Disease

MedicinePathogenesisPathologyLipid-trafficking DefectPharmacology

Extensive Glycosphingolipid Depletion in the Liver and Lymphoid Organs of Mice Treated with N-Butyldeoxynojirimycin

Frances M. Platt, Gabriele Reinkensmeier, Raymond A. Dwek, +1

Journal of Biological Chemistry

Combination of α-glucosidase inhibitor and ribavirin for the treatment of dengue virus infection in vitro and in vivo

Jinhong Chang, Wouter Schul, Terry D. Butters, +18

Antiviral Research

Dengue Virus Infectionα-Glucosidase InhibitorNeurovirologyMedicineImmunology +6

Rational Design and Synthesis of Highly Potent Pharmacological Chaperones for Treatment of N370S Mutant Gaucher Disease

Guan‐Nan Wang, Gabriele Reinkensmeier, Siwei Zhang, +5

Journal of Medicinal Chemistry

Bioorganic ChemistryOne-pot Tandem ReactionGlycobiologyMolecular BiologyEnzymatic Modification +18

High-Performance Liquid Chromatography Analysis of Ganglioside Carbohydrates at the Picomole Level after Ceramide Glycanase Digestion and Fluorescent Labeling with 2-Aminobenzamide

D. R. Wing, Brett Garner, Victoria Hunnam, +5

Analytical Biochemistry

Food ChemistryEngineeringBiochemistryPicomole LevelBioanalysis +11

Selection of the biological activity of DNJ neoglycoconjugates through click length variation of the side chain

Nicolas E. S. Guisot, Dominic S. Alonzi, Gabriele Reinkensmeier, +9

Organic & Biomolecular Chemistry

Bioorganic ChemistryGlycobiologyMolecular BiologyClick Length VariationCytoskeleton +15

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Mylvaganam Jeyakumar, David A. Smith, Elena Eliott-Smith, +8

Neurobiology of Disease

Disease MechanismPathogenesisImmune RegulationExperimental NeuropathologyPathology +3

Inhibition of glycogen breakdown by imino sugars in vitro and in vivo

Ulrika Andersson‐Hall, Gabriele Reinkensmeier, Terry D. Butters, +2

Biochemical Pharmacology

Imino SugarsBiochemistryMedicineInsulin ManagementBioanalysis +8