Scientific Research Papers For Niemann Pick Type C
December 1, 2007 by Daddy
Filed under Scientific Papers
The Complex Gene Scientists Are Studying Niemann Pick Type C1 – Chromosome 18q11-q12
UT Southwestern – Brown & Goldstein Lab
- Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport in Niemann-Pick type C cells
- Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol
- NPC2 facilitates bidirectional transfer of cholesterol between Niemann Pick Type C1 and lipid bilayers, a step in cholesterol egress from lysosomes
- Niemann Pick Type C1 and Niemann Pick Type C2 function as a tag team duo to mobilize cholesterol
- Purified NPC1 Protein: Binding of Cholesterol and Oxysterols (Large PDF)
- Purified NPC1 Protein: Localization of Sterol Binding (Large PDF)
UT Southwestern – Dr. John Dietschy Lab
- Cyclodextrin overcomes the transport defect in nearly every organ of the newborn or mature NPC1 mouse leading to excretion of the sequestered cholesterol as bile acid
- Reversal of defective lysosomal transport in Niemann Pick Type C disease ameliorates liver dysfunction and neurodegenerations in NPC mouse mouse
- GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice
- Treatments that affect lifespan of NPC1 Mouse
- Liver Cell Death
- Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease
- Cholesterol Accumulation and Liver Cell Death in Mice With Niemann-Pick Type C Disease
Einstein University – Dr. Steven Walkley Lab
- Chronic Cyclodextrin Treatment of NPC Disease Ameliorates Neuronal Choleseterol Storage and Glycosphingolipid Storage and Disease Progression
- Chronic Cyclodextrin Administration Amerloriates Clinical Symptoms and Storage Accumulations in Niemann Pick Type C
Washington University St. Louis: Dr. Daniel Ory Lab
- Oxysterol Patent Application for Niemann Pick Type C
- Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking
Melbourne Neuropsychiatry Center- Dr. Mark Walterfang Lab
- White and gray matter alterations in adults with Niemann Pick Type C disease
- Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits
- Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables
Oxford University- Dr. Fran Platt Lab
Stanford University – Dr. Matt Scott Lab
- Link between Niemann Pick Type C and Alzheimer’s
- Clues to Neuro Degeneration in Niemann Pick Type C With Global Gene Expression Profiling
- A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis
Mt. Sinai – Dr. Yiannis Ioannou Lab
Cornell University – Dr. Fred Maxwell Lab
- Screening to Revert Cholesterol Accumulation
- Sterol, Protein and Lipid Trafficking in Chinese Hamster Ovary Cells with NPC1 Defect
- Automated Microscopy Screening
University of Pennsylvania – Dr. Charles Vite Lab (researchers Niemann Pick Type C Cats)
- 2 Hydroxypropyl Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease
- Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease
University of Geneva: Greunberg Lab
Dr. Peter Penchev Papers
UCSF
University of Arizona
University of Alberta – Dr. Jean Vance Lab
- Lipid Homeostasis and Lipoprotein Secretion in Niemann-Pick C1-deficient Hepatocytes
- NPC1 Protein Recycling Endosomes of Presynaptic Nerve Terminals
Mayo Clinic – Dr. Marc C. Patterson Papers
- Consequences of NPC1 and NPC2 loss of function in mammalian neurons
- MIGLUSTAT IN NIEMANN-PICK TYPE C (NPC) DISEASE: A 1-YEAR INTERIM ANALYSIS
- The pathophysiology and mechanisms of Niemann Pick Type C disease
- Niemann Pick Type C overview paper – Marc Patterson
- Current Understanding and Treatment Options For Niemann Pick Type C
Imaging Papers
- Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C – a case series
- Diffusion tensor Imaging in Niemann Pick Type C disease
General NPC Papers
- The adult form of Niemann–Pick disease type C
- The natural history of Niemann–Pick disease type C in the UK
- The National Niemann–Pick C1 Disease Database: Report of Clinical Features and Health Problems
- New Lysosomal Storage Disorders (LSDs) Unfolding
- Childhood, Teen and Young Adult Dementias
- Niemann-Pick type C disease (NP-C) is a considerable diagnosis in juvenile and adult-onset psychiatric disorders
Alzheimer’s Papers
- HO-1 and Neurodegeneration Oxysterols
- Brain Sterol dysregulation in Alzheimers
- Innate immunity and transcription of MGAT-III and Toll-like receptors in Alzheimer’s disease patients are improved by bisdemethoxycurcumin
Other NPC Papers of Significance:
- Identification of Novel Genes and Pathways Regulating SREBP Transcriptional Activity
- Mechanism of Cholesterol Transfer
- Demonstration of lysosomal localization for the mammalian ependymin-related protein
- Non Vesciular Sterol Tranport: two protein families and a sterol sensor
- Down-regulation of microglial activation may represent a practical strategy for combating neurodegenerative disorders
- Endosomal Accumulation of Toll-Like Receptor 4 Causes Constitutive Secretion of Cytokines and Activation of Signal Transducers and Activators of Transcription in Niemann–Pick Disease Type C (NPC) Fibroblasts: A Potential Basis for Glial Cell Activation in the NPC Brain
- The role of vesicular transport in ABCA1-dependent lipid efflux and its connection with NPC pathways
- Mechanism of cholesterol transfer from the Niemann-Pick Type C2 protein to model membranes supports a role in lysosomal cholesterol transport
- Amelioration of muscular dystrophy by transgenic expression of Niemann-Pick C1
Niemann Pick Type C gene and relationship to viruses (HIV, Ebola, RSV, etc)
Cyclodextrin Papers
- Cyclodextrin does not cross the Blood Brain Barrier – Final Cyclodex Poster Kings College London
- 2-Hydroxypropyl-b-cyclodextrin (HP-b-CD) A toxicology review
- Cyclodextrin in Rats and Dogs
- Cyclodextrins in products
- 7 Ketocholeterol and Cyclodextrin
- Sporonox IV Drug From Janssen Pharma contains Cyclodextrin
- Cyclodextrins differentially mobilize free and esterified cholesterol from primary human foam cell macrophages
- Safety of Parenteral Hydroxypropyl Beta Cyclodextrin
- Cyclodextrins enhance drug delivery
- Cyclodextrins promote protein aggregation posing risks
- ADRENOLEUKODYSTROPHY Cyclodextrin Paper
- Lajos Cyclo Ideas