AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome

(2016) Chang Xie et al.   CELL RESEARCH

Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia

(2016) Ezim Ajufo et al.   Current Atherosclerosis Reports

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1

(2016) Randy J. Chandler et al.   HUMAN MOLECULAR GENETICS

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice

(2016) Yang Yang et al.   NATURE BIOTECHNOLOGY

Gene therapy for hemophilia: past, present and future

(2016) Lindsey A. George et al.   SEMINARS IN HEMATOLOGY

Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts

(2015) Bei-Bei Chu et al.   CELL

New and improved AAVenues: current status of hemophilia B gene therapy

(2015) Mark A Brimble et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

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

Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells

(2014) Isabelle Buard et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype

(2014) Hao Yin et al.   NATURE BIOTECHNOLOGY

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

(2014) C. Long et al.   SCIENCE

Correction of a Genetic Disease in Mouse via Use of CRISPR-Cas9

(2013) Yuxuan Wu et al.   Cell Stem Cell

scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease

(2013) Thomas Bucher et al.   HUMAN GENE THERAPY

Intracerebroventricular Injection of Adeno-Associated Virus 6 and 9 Vectors for Cell Type–Specific Transgene Expression in the Spinal Cord

(2013) Elisabeth Dirren et al.   HUMAN GENE THERAPY

Current controversies in Niemann–Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

(2013) Robert P. Erickson   JOURNAL OF APPLIED GENETICS

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

(2012) Benny Liu   Clinical Lipidology

Ezetimibe blocks the internalization of NPC1L1 and cholesterol in mouse small intestine

(2012) Chang Xie 谢畅 et al.   JOURNAL OF LIPID RESEARCH

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

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

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

(2011) X. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes

(2010) Michael L. Wang et al.   Cell Metabolism

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

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

(2009) Hyock Joo Kwon et al.   CELL

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

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells

(2009) L. Abi-Mosleh 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

The Cholesterol Absorption Inhibitor Ezetimibe Acts by Blocking the Sterol-Induced Internalization of NPC1L1

(2008) Liang Ge et al.   Cell Metabolism

Gene Therapy Using Adeno-Associated Virus Vectors

(2008) S. Daya et al.   CLINICAL MICROBIOLOGY REVIEWS

Clinical gene therapy using recombinant adeno-associated virus vectors

(2008) C Mueller et al.   GENE THERAPY

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

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