Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy

Polar Dibenzocyclooctynes for Selective Labeling of Extracellular Glycoconjugates of Living Cells

(2012) Frédéric Friscourt et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Cholinergic Abnormalities, Endosomal Alterations and Up-Regulation of Nerve Growth Factor Signaling in Niemann-Pick Type C Disease

(2012) Carolina Cabeza et al.   Molecular Neurodegeneration

Metabolic Labeling of Fucosylated Glycans in Developing Zebrafish

(2011) Karen W. Dehnert et al.   ACS Chemical Biology

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

(2011) Sharon Zhou et al.   AMERICAN JOURNAL OF PATHOLOGY

Strain-Promoted Alkyne-Azide Cycloadditions (SPAAC) Reveal New Features of Glycoconjugate Biosynthesis

(2011) Ngalle Eric Mbua et al.   CHEMBIOCHEM

Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

(2011) Jean E Vance et al.   CURRENT OPINION IN LIPIDOLOGY

Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes

(2010) Michael L. Wang et al.   Cell Metabolism

Niemann–Pick type C pathogenesis and treatment: from statins to sugars

(2010) Moneek Madra et al.   Clinical Lipidology

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Cholesterol Pathways Affected by Small Molecules That Decrease Sterol Levels in Niemann-Pick Type C Mutant Cells

(2010) Madalina Rujoi et al.   PLoS One

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

(2010) A. I. Rosenbaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

(2010) Cecilia Devlin et al.   TRAFFIC

Bioorthogonal Chemistry: Fishing for Selectivity in a Sea of Functionality

(2009) Ellen M. Sletten et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

(2009) Benny Liu et al.   JOURNAL OF LIPID RESEARCH

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

(2009) L. Abi-Mosleh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Visualizing Metabolically Labeled Glycoconjugates of Living Cells by Copper-Free and Fast Huisgen Cycloadditions

(2008) Xinghai Ning et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

(2008) R. E. Infante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish

(2008) S. T. Laughlin et al.   SCIENCE