Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation

(2020) Jason Newton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LPA 1 , LPA 2 , LPA 4 , and LPA 6 receptor expression during mouse brain development

(2019) Olga Suckau et al.   DEVELOPMENTAL DYNAMICS

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

(2019) Anna-Maria Neßlauer et al.   Lipids in Health and Disease

Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann–Pick Disease Type C1

(2019) Anja U. Bräuer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

(2019) Xiao Feng et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann–Pick-Disease Type C1

(2018) Lynn Ebner et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Miglustat in Niemann-Pick disease type C patients: a review

(2018) Mercè Pineda et al.   Orphanet Journal of Rare Diseases

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts

(2017) Jason Newton et al.   FASEB JOURNAL

Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1

(2017) Anja Meyer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sphingosine 1-phosphate receptor 3 and RhoA signaling mediate inflammatory gene expression in astrocytes

(2017) Stephanie S. Dusaban et al.   Journal of Neuroinflammation

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Sphingolipids: membrane microdomains in brain development, function and neurological diseases

(2017) Anne S. B. Olsen et al.   Open Biology

Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

(2017) Tobias Piroth et al.   Frontiers in Neurology

Transcription factor Yin-Yang 2 alters neuronal outgrowth in vitro

(2015) Martin Klar et al.   CELL AND TISSUE RESEARCH

Sphingolipids: Important Players in Multiple Sclerosis

(2014) Ramona Halmer et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: A mouse model of Niemann-Pick type C1 disease

(2014) Fabian Maass et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Active, phosphorylated fingolimod inhibits histone deacetylases and facilitates fear extinction memory

(2014) Nitai C Hait et al.   NATURE NEUROSCIENCE

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

(2013) A. O. Speak et al.   BLOOD

Plasticity-related gene 3 promotes neurite shaft protrusion

(2013) Tanja Velmans et al.   BMC NEUROSCIENCE

NPC1, intracellular cholesterol trafficking and atherosclerosis

(2013) Xiao-Hua Yu et al.   CLINICA CHIMICA ACTA

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann–Pick Type C1 mice

(2013) M. Hovakimyan et al.   NEUROSCIENCE

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

(2013) Michaela Trilck et al.   Orphanet Journal of Rare Diseases

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

Alterations in Gene Expression in Mutant Amyloid Precursor Protein Transgenic Mice Lacking Niemann-Pick Type C1 Protein

(2013) Mahua Maulik et al.   PLoS One

Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain

(2013) Barry E. Kennedy et al.   PLoS One

Aromatase Inhibition Abolishes LTP Generation in Female But Not in Male Mice

(2012) R. Vierk et al.   JOURNAL OF NEUROSCIENCE

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

Hearing Loss and Hair Cell Death in Mice Given the Cholesterol-Chelating Agent Hydroxypropyl-β-Cyclodextrin

(2012) Mark A. Crumling et al.   PLoS One

Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

(2011) Esther Glaus et al.   MOLECULAR THERAPY

Sphingosine Kinase 1 and Sphingosine 1-Phosphate Receptor 3 Are Functionally Upregulated on Astrocytes under Pro-Inflammatory Conditions

(2011) Iris Fischer et al.   PLoS One

Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et génétique

(2010) Marie T. Vanier   ARCHIVES DE PEDIATRIE

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

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

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

The clinical spectrum of fetal Niemann-Pick type C

(2009) Ronen Spiegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 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

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

Regulation of Histone Acetylation in the Nucleus by Sphingosine-1-Phosphate

(2009) N. C. Hait et al.   SCIENCE

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

FTY720 Rescue Therapy in the Dark Agouti Rat Model of Experimental Autoimmune Encephalomyelitis: Expression of Central Nervous System Genes and Reversal of Blood-Brain-Barrier Damage

(2008) Carolyn A. Foster et al.   BRAIN PATHOLOGY

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease

(2008) Yun-Ping Wu et al.   HUMAN MOLECULAR GENETICS

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

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

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