Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

A High-Content RNAi-Screening Assay to Identify Modulators of Cholesterol Accumulation in Niemann–Pick Type C Cells

(2010) Shilpi Arora et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

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 disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

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

Mechanisms and consequences of impaired lipid trafficking in Niemann–Pick type C1-deficient mammalian cells

(2009) Barbara Karten 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

Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening

(2009) Fabian Bartz et al.   Cell Metabolism

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

(2009) William S. Garver et al.   JOURNAL OF LIPID RESEARCH

Recommendations on the diagnosis and management of Niemann-Pick disease type C

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

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

(2009) M. Pineda 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

Development of a Rab9 Transgenic Mouse and Its Ability to Increase the Lifespan of a Murine Model of Niemann-Pick Type C Disease

(2008) Tatiana Kaptzan et al.   AMERICAN JOURNAL OF PATHOLOGY

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

NPC-db, a Niemann-Pick type C disease gene variation database

(2007) Heiko Runz et al.   HUMAN MUTATION