Evidence that small molecule enhancement of β-hexosaminidase activity corrects the behavioral phenotype in Dutch APPE693Q mice through reduction of ganglioside-bound Aβ

Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism

(2014) Hyun Lee et al.   MOLECULES AND CELLS

Soluble Aβ Oligomers Are Rapidly Sequestered from Brain ISF In Vivo and Bind GM1 Ganglioside on Cellular Membranes

(2014) Soyon Hong et al.   NEURON

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

(2013) Robert E. Boyd et al.   JOURNAL OF MEDICINAL CHEMISTRY

Binding, Conformational Transition and Dimerization of Amyloid-β Peptide on GM1-Containing Ternary Membrane: Insights from Molecular Dynamics Simulation

(2013) Moutusi Manna et al.   PLoS One

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-  Peptide

(2012) S. Keilani et al.   JOURNAL OF NEUROSCIENCE

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity

(2012) Thai Leong Yap et al.   MOLECULAR GENETICS AND METABOLISM

Early visual memory deficits: A neuropsychological marker of GBA mutations in PD?

(2012) A. Daniele et al.   NEUROLOGY

Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study

(2012) R. N. Alcalay et al.   NEUROLOGY

Neurophysiological correlates of object recognition in the dorsal subiculum

(2012) Eric H. Chang et al.   Frontiers in Behavioral Neuroscience

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone

(2011) Katherine S. Bateman et al.   JOURNAL OF MEDICINAL CHEMISTRY

Sphingolipid Storage Affects Autophagic Metabolism of the Amyloid Precursor Protein and Promotes A  Generation

(2011) I. Y. Tamboli et al.   JOURNAL OF NEUROSCIENCE

Roles for dysfunctional sphingolipid metabolism in Alzheimer's disease neuropathogenesis

(2010) Norman J. Haughey et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

(2010) Etty Osher et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Up-and-down topological mode of amyloid β-peptide lying on hydrophilic/hydrophobic interface of ganglioside clusters

(2008) Maho Utsumi et al.   GLYCOCONJUGATE JOURNAL