Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

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

(2012) Manuel E. Lopez et al.   HUMAN MOLECULAR GENETICS

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

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy

(2012) Graziela S. Ribas et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

(2012) Mary Carmen Vázquez et al.   Oxidative Medicine and Cellular Longevity

Genomic Expression Analyses Reveal Lysosomal, Innate Immunity Proteins, as Disease Correlates in Murine Models of a Lysosomal Storage Disorder

(2012) Md. Suhail Alam et al.   PLoS One

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

(2012) Stephanie M. Cologna et al.   PLoS One

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

(2012) Dongbiao Shen et al.   Nature Communications

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

OASIS: Online Application for the Survival Analysis of Lifespan Assays Performed in Aging Research

(2011) Jae-Seong Yang et al.   PLoS One

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

Thiol Redox Transitions in Cell Signaling: a Lesson from N-Acetylcysteine

(2011) Tiziana Parasassi et al.   TheScientificWorldJOURNAL

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

(2010) Guanghong Liao et al.   BRAIN RESEARCH

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

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

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

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

Oral N-Acetyl-Cysteine Attenuates Loss of Dopaminergic Terminals in α-Synuclein Overexpressing Mice

(2010) Joanne Clark et al.   PLoS One

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

N-acetylcysteine on its way to a broader application in patients with acute liver failure

(2009) Alexander Koch et al.   HEPATOLOGY

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

Cholesterol Synthesis Inhibitor U18666A and the Role of Sterol Metabolism and Trafficking in Numerous Pathophysiological Processes

(2009) Richard J. Cenedella   LIPIDS

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

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

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

(2008) Stefania Zampieri et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span ofNpc1-/-mice

(2008) Min Zhang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

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

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

NPC1/NPC2 function as a tag team duo to mobilize cholesterol

(2008) K. Subramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA