A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

Animal models for Niemann-Pick type C: implications for drug discovery & development

(2019) Cathrine K. Fog et al.   Expert Opinion on Drug Discovery

Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease

(2019) Simon Wheeler et al.   NEUROBIOLOGY OF DISEASE

Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity

(2019) Tamar Farfel-Becker et al.   Cell Reports

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

Axonal transport and maturation of lysosomes

(2018) Shawn M Ferguson   CURRENT OPINION IN NEUROBIOLOGY

Lysosome trafficking and signaling in health and neurodegenerative diseases

(2018) Pearl P.Y. Lie et al.   NEUROBIOLOGY OF DISEASE

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

(2018) Wei-Chia Tseng et al.   Disease Models & Mechanisms

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

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

(2017) Chao Wang et al.   Stem Cell Reports

Neuronal energy consumption: biophysics, efficiency and evolution

(2016) Jeremy E Niven   CURRENT OPINION IN NEUROBIOLOGY

Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions

(2016) Valérie Demais et al.   JOURNAL OF NEUROSCIENCE

Metabolic reprogramming during neuronal differentiation from aerobic glycolysis to neuronal oxidative phosphorylation

(2016) Xinde Zheng et al.   eLife

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

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

Improved vectors and genome-wide libraries for CRISPR screening

(2014) Neville E Sanjana et al.   NATURE METHODS

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O

(2014) Katarzyna Kwiatkowska et al.   Orphanet Journal of Rare Diseases

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

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

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

Therapeutic potential of cyclodextrins in the treatment of Niemann–Pick type C disease

(2012) Benny Liu   Clinical Lipidology

Oxidative stress in Niemann–Pick disease, type C

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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation

(2009) M. G. Vander Heiden et al.   SCIENCE

Advances in measuring cellular bioenergetics using extracellular flux

(2008) David A. Ferrick et al.   DRUG DISCOVERY TODAY