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

Cholesterol accumulation in Niemann Pick type C (NPC) model cells causes a shift in APP localization to lipid rafts

(2010) Marko Kosicek et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease

(2010) Katarina Kågedal et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Niemann–Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface and its increased processing through the β-secretase pathway

(2010) Martina Malnar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Thiadiazole Carbamates: Potent Inhibitors of Lysosomal Acid Lipase and Potential Niemann−Pick Type C Disease Therapeutics

(2010) Anton I. Rosenbaum et al.   JOURNAL OF MEDICINAL CHEMISTRY

Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life

(2010) Charina M Ramirez et al.   PEDIATRIC RESEARCH

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

Aggregated LDL in Contact With Macrophages Induces Local Increases in Free Cholesterol Levels That Regulate Local Actin Polymerization

(2009) Inna Grosheva et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Chemical screen to reduce sterol accumulation in Niemann–Pick C disease cells identifies novel lysosomal acid lipase inhibitors

(2009) Anton I. Rosenbaum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Intracellular sterol dynamics

(2009) Bruno Mesmin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

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

Deficiency of Niemann-Pick Type C-1 Protein Impairs Release of Human Immunodeficiency Virus Type 1 and Results in Gag Accumulation in Late Endosomal/Lysosomal Compartments

(2009) Y. Tang et al.   JOURNAL OF VIROLOGY

Macrophages Create an Acidic Extracellular Hydrolytic Compartment to Digest Aggregated Lipoproteins

(2009) Abigail S. Haka et al.   MOLECULAR BIOLOGY OF THE CELL

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

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

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Neutral Cholesterol Ester Hydrolase, a Key Enzyme Removing Cholesterol from Macrophages

(2008) Hiroaki Okazaki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels

(2008) Julien Chevallier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE