Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform forin vivoscreening of candidate therapeutic compounds

Niemann-Pick disease type C in the newborn period: a single-center experience

(2017) Ersin Gumus et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

(2017) Eugen Mengel et al.   MOLECULAR GENETICS AND METABOLISM

Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C

(2017) Tsuyoshi Kodachi et al.   NEUROPATHOLOGY

Neural Crest Migration and Survival Are Susceptible to Morpholino-Induced Artifacts

(2017) Elena F. Boer et al.   PLoS One

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection

(2016) Xin Gong et al.   CELL

Structure of human Niemann–Pick C1 protein

(2016) Xiaochun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

(2015) Fatma O. Kok et al.   DEVELOPMENTAL CELL

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

A Post-Developmental Genetic Screen for Zebrafish Models of Inherited Liver Disease

(2015) Seok-Hyung Kim et al.   PLoS One

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Fluorescently Labeled Methyl-Beta-Cyclodextrin Enters Intestinal Epithelial Caco-2 Cells by Fluid-Phase Endocytosis

(2014) Ferenc Fenyvesi et al.   PLoS One

The Serine-Threonine Protein Kinase PAK4 Is Dispensable in Zebrafish: Identification of a Morpholino-Generated Pseudophenotype

(2014) Sheran H. W. Law et al.   PLoS One

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

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

Heritable and Precise Zebrafish Genome Editing Using a CRISPR-Cas System

(2013) Woong Y. Hwang et al.   PLoS One

NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish

(2012) Sophie Louwette et al.   HUMAN MOLECULAR GENETICS

Ototoxin-induced cellular damage in neuromasts disrupts lateral line function in larval zebrafish

(2011) Lauren M.J. Buck et al.   HEARING RESEARCH

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

(2011) Robert A. Maue et al.   HUMAN MOLECULAR GENETICS

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish

(2011) Tyler Schwend 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

Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin

(2010) S.-H. Kim et al.   Disease Models & Mechanisms

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

Cholesterol Pathways Affected by Small Molecules That Decrease Sterol Levels in Niemann-Pick Type C Mutant Cells

(2010) Madalina Rujoi et al.   PLoS One

The yolk syncytial layer in early zebrafish development

(2010) Lara Carvalho et al.   TRENDS IN CELL BIOLOGY

Chemical screen to reduce sterol accumulation in Niemann–Pick C disease cells identifies novel lysosomal acid lipase inhibitors

(2009) Anton I. Rosenbaum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) Hyock Joo Kwon et al.   CELL

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