Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C

Npc1 deficiency in the C57BL/6J genetic background enhances Niemann–Pick disease type C spleen pathology

(2011) Julio Parra et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro

(2011) Kyle B. Peake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Global gene expression profile progression in Gaucher disease mouse models

(2011) You-Hai Xu et al.   BMC GENOMICS

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

(2011) Ting Yu et al.   HUMAN MOLECULAR GENETICS

Intracellular Lipid Flux and Membrane Microdomains as Organizing Principles in Inflammatory Cell Signaling

(2011) M. B. Fessler et al.   JOURNAL OF IMMUNOLOGY

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

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

Microglial Cells Contribute to Endogenous Brain Defenses after Acute Neonatal Focal Stroke

(2011) J. V. Faustino et al.   JOURNAL OF NEUROSCIENCE

Ebola virus entry requires the cholesterol transporter Niemann–Pick C1

(2011) Jan E. Carette et al.   NATURE

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Abnormal Changes in NKT Cells, the IGF-1 Axis, and Liver Pathology in an Animal Model of ALS

(2011) Arseny Finkelstein et al.   PLoS One

Abnormal gene expression in cerebellum of Npc1−/− mice during postnatal development

(2010) Guanghong Liao et al.   BRAIN RESEARCH

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

(2010) Danielle te Vruchte et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expression of macrophage inflammatory protein-1α and monocyte chemoattractant protein-1 in glioma-infiltrating microglia: Involvement of ATP and P2X7 receptor

(2010) Kuan-Min Fang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Niemann-Pick C disease: Not your average lysosomal storage disease

(2010) E. M. Kaye   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology

(2010) Emma J. Parkinson-Lawrence et al.   PHYSIOLOGY

Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking

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

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

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

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

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

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

C1q: the perfect complement for a synaptic feast?

(2008) V. Hugh Perry et al.   NATURE REVIEWS NEUROSCIENCE

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