Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman, +35

Science

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland, +5

Science

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

Emyr Lloyd‐Evans, Anthony J. Morgan, Xingxuan He, +6

Nature Medicine

Mendelian DisorderDisease MechanismGenetic DisorderMedicinePathogenesis +8

Accumulation of Amyloid Precursor Protein in the Mitochondrial Import Channels of Human Alzheimer’s Disease Brain Is Associated with Mitochondrial Dysfunction

Latha Devi, Badanavalu M. Prabhu, Domenico F. Galati, +2

Journal of Neuroscience

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

Hyock Joo Kwon, Lina Abi-Mosleh, Michael Wang, +4

Cell

Proteinlipid InteractionSignal TransductionOxysterolBiochemistryNatural Sciences +7

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Marc C. Patterson, Darleen Vecchio, Helena Prady, +2

The Lancet Neurology

MedicineNiemann-pick C DiseasePathology

Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis

Francisca G. Caballero, Anna Colell, Albert Morales, +4

Cell Metabolism

Lipid PeroxidationImmunologyPathologyFatty Liver DiseaseOxidative Stress +14

Therapeutic Effects of Coenzyme Q₁₀and Remacemide in Transgenic Mouse Models of Huntington's Disease

Robert J. Ferrante, Ole A. Andreassen, Alpaslan Dedeoglu, +4

Journal of Neuroscience

Transgenic Mouse ModelsCoenzyme Q10GeneticsMolecular BiologyTherapeutic Effects +14

Niemann–Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

Lisa Griffin, Wenhui Gong, Lucie Vérot, +1

Nature Medicine

Molecular NeuroscienceExperimental NeuropathologyPathologyDegenerative DiseaseNeurology +2

Autoxidation of lipids and antioxidation by alpha-tocopherol and ubiquinol in homogeneous solution and in aqueous dispersions of lipids: unrecognized consequences of lipid particle size as exemplified by oxidation of human low density lipoprotein.

K. U. Ingold, Vincent W. Bowry, Roland Stocker, +1

Proceedings of the National Academy of Sciences

Low Density LipoproteinLipid AnalysisOxysterolHomogeneous SolutionBiochemistry +11