Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

The Transcriptional Regulation of the Human CYP2C Genes

(2012) Yuping Chen et al.   CURRENT DRUG METABOLISM

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

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

Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress

(2011) Mary C. Vázquez et al.   PLoS One

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

(2010) Guanghong Liao et al.   BRAIN RESEARCH

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

(2010) E. B. Vitner et al.   HUMAN MOLECULAR GENETICS

Oxidative stress in Niemann–Pick disease, type C

(2010) Rao Fu et al.   MOLECULAR GENETICS AND METABOLISM

Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons

(2010) Andres Klein et al.   NEUROBIOLOGY OF DISEASE

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

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

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2009) Hyock Joo Kwon et al.   CELL

Epoxyeicosatrienoic acids: formation, metabolism and potential role in tissue physiology and pathophysiology

(2009) Rüdiger Kaspera et al.   Expert Opinion on Drug Metabolism & Toxicology

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

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

The regulation of inflammation by galectin-3

(2009) Neil C. Henderson et al.   IMMUNOLOGICAL REVIEWS

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

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

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

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Lipids as targets for novel anti-inflammatory therapies

(2009) Andrea Huwiler et al.   PHARMACOLOGY & THERAPEUTICS

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

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

Cathepsin D—Many functions of one aspartic protease

(2008) Petr Benes et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Three Patterns of Cytochrome P450 Gene Expression during Liver Maturation in Mice

(2008) S. N. Hart et al.   DRUG METABOLISM AND DISPOSITION

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

(2008) Alejandra R. Alvarez et al.   FASEB JOURNAL

In vivoantisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease

(2008) Victoria M. Rimkunas et al.   HEPATOLOGY

Role for Spi-C in the development of red pulp macrophages and splenic iron homeostasis

(2008) Masako Kohyama et al.   NATURE

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

Cellular and molecular mechanisms of fibrosis

(2007) TA Wynn   JOURNAL OF PATHOLOGY