Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

(2016) Md. Suhail Alam et al.   Science Translational Medicine

A Global Map of Lipid-Binding Proteins and Their Ligandability in Cells

(2015) Micah J. Niphakis et al.   CELL

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

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

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

RNA interference against TMEM97 inhibits cell proliferation, migration, and invasion in glioma cells

(2015) Guanzhong Qiu et al.   TUMOR BIOLOGY

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

(2015) Aenne S. Thormaehlen et al.   PLoS Genetics

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

(2014) Frances M. Platt et al.   Annual Review of Genomics and Human Genetics

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

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

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

(2013) Paul Helquist et al.   Neurotherapeutics

Niemann-Pick disease type C symptomatology: an expert-based clinical description

(2013) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

(2013) Miriam Stampfer 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

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

(2013) Darius Ebrahimi-Fakhari et al.   PEDIATRIC RESEARCH

RNAi–Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function

(2013) Peter Blattmann et al.   PLoS Genetics

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Improved structure, function and compatibility for CellProfiler: modular high-throughput image analysis software

(2011) Lee Kamentsky et al.   BIOINFORMATICS

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

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

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

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

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

Distinct Roles In Vivo for the Ubiquitin-Proteasome System and the Autophagy-Lysosomal Pathway in the Degradation of  -Synuclein

(2011) D. Ebrahimi-Fakhari et al.   JOURNAL OF NEUROSCIENCE

Protein Replacement Therapy Partially Corrects the Cholesterol-Storage Phenotype in a Mouse Model of Niemann-Pick Type C2 Disease

(2011) Gitte Krogh Nielsen et al.   PLoS One

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

(2011) M. S. Deffieu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal Lipid Storage Diseases

(2011) H. Schulze et al.   Cold Spring Harbor Perspectives in Biology

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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking

(2009) Kenneth D. Harrison et al.   Cell Metabolism

Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening

(2009) Fabian Bartz et al.   Cell Metabolism

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

Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels

(2008) Julien Chevallier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

NPC-db, a Niemann-Pick type C disease gene variation database

(2007) Heiko Runz et al.   HUMAN MUTATION