Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann–Pick type C disease fibroblasts

Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

(2012) Dongbiao Shen et al.   Nature Communications

Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration

(2011) Ting Yu et al.   HUMAN MOLECULAR GENETICS

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ca2+Homeostasis Modulation Enhances the Amenability of L444P Glucosylcerebrosidase to Proteostasis Regulation in Patient-Derived Fibroblasts

(2010) Fan Wang et al.   ACS Chemical Biology

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis

(2010) Derrick Sek Tong Ong et al.   Nature Chemical Biology

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

(2010) Ed Wraith   Therapeutics and Clinical Risk Management

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

(2009) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Activating Mutations of the TRPML1 Channel Revealed by Proline-scanning Mutagenesis

(2009) Xian-ping Dong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY

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

(2007) Heiko Runz et al.   HUMAN MUTATION