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

Function of the Niemann–Pick type C proteins and their bypass by cyclodextrin

(2011) Jean E Vance et al.   CURRENT OPINION IN LIPIDOLOGY

New Agents and Approaches to Treatment in Niemann-Pick Type C Disease

(2011) Maria S. Perez-Poyato et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Copper incorporation into ceruloplasmin is regulated by Niemann-Pick C1 protein

(2011) Chikatoshi Yanagimoto et al.   HEPATOLOGY RESEARCH

A role for oxysterol-binding protein–related protein 5 in endosomal cholesterol trafficking

(2011) Ximing Du et al.   JOURNAL OF CELL BIOLOGY

Altered vitamin E status in Niemann-Pick type C disease

(2011) L. Ulatowski et al.   JOURNAL OF LIPID RESEARCH

Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1−/− mice

(2011) Akshay Muralidhar et al.   MOLECULAR GENETICS AND METABOLISM

A Novel Neurotrophic Drug for Cognitive Enhancement and Alzheimer's Disease

(2011) Qi Chen 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

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

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

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

Alzheimer's Disease

(2010) Henry W. Querfurth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

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

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

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Mitochondrial Glutathione, a Key Survival Antioxidant

(2009) Montserrat Marí et al.   ANTIOXIDANTS & REDOX SIGNALING

Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

(2009) Ángeles Rodríguez-Hernández et al.   Autophagy

Cyclodextrins promote protein aggregation posing risks for therapeutic applications

(2009) Min S. Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Reactive oxygen species and peroxisomes: Struggling for balance

(2009) Nina A. Bonekamp et al.   BIOFACTORS

Amyloid-dependent triosephosphate isomerase nitrotyrosination induces glycation and tau fibrillation

(2009) Francesc X. Guix et al.   BRAIN

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

(2009) Hyock Joo Kwon et al.   CELL

α-tocopherol β-oxidation localized to rat liver mitochondria

(2009) Debbie J. Mustacich et al.   FREE RADICAL BIOLOGY AND MEDICINE

7-Ketocholesterol Incorporation into Sphingolipid/Cholesterol-enriched (Lipid Raft) Domains Is Impaired by Vitamin E

(2009) Marie-Charlotte Royer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Association of autophagy with cholesterol-accumulated compartments in Niemann-Pick disease type C cells

(2009) Seiya Ishibashi et al.   JOURNAL OF CLINICAL NEUROSCIENCE

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

(2009) Mark Charman et al.   JOURNAL OF LIPID RESEARCH

Mitochondrial Cholesterol Loading Exacerbates Amyloid   Peptide-Induced Inflammation and Neurotoxicity

(2009) A. Fernandez et al.   JOURNAL OF NEUROSCIENCE

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

(2009) James E. Wraith 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

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

(2009) S. L. Sturley 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

Mitochondrial oxidative stress and dysfunction in myocardial remodelling

(2008) H. Tsutsui et al.   CARDIOVASCULAR RESEARCH

Impaired functions of neural stem cells by abnormal nitric oxide-mediated signaling in an in vitro model of Niemann-Pick type C disease

(2008) Sun-Jung Kim et al.   CELL RESEARCH

Oxidative and Nitrosative Stress and Fibrogenic Response

(2008) R. Urtasun et al.   Clinics in Liver Disease

Metals in Alzheimer's and Parkinson's Diseases

(2008) Kevin J Barnham et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides

(2008) Chikatoshi Yanagimoto et al.   EXPERIMENTAL CELL RESEARCH

N-acetylcysteine for antioxidant therapy: pharmacology and clinical utility

(2008) Seetal Dodd et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?

(2008) Chris D. Pacheco et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

Mitochondrial dysfunction and oxidative stress in the pathogenesis of alcohol- and obesity-induced fatty liver diseases

(2008) Sudheer K. Mantena et al.   FREE RADICAL BIOLOGY AND MEDICINE

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

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

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

(2008) Jessie R. Zhang et al.   JOURNAL OF CLINICAL INVESTIGATION

Phospholipidosis and down-regulation of the PI3-K/PDK-1/Akt signalling pathway are vitamin E inhibitable events associated with 7-ketocholesterol-induced apoptosis

(2008) Anne Vejux et al.   JOURNAL OF NUTRITIONAL BIOCHEMISTRY

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

(2008) Damien Galanaud et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick C1-Like 1 Mediates  -Tocopherol Transport

(2008) K. Narushima et al.   MOLECULAR PHARMACOLOGY

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

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