Scientific Research Papers For Niemann Pick Type C

The Complex Gene Scientists Are Studying Niemann Pick Type C1 – Chromosome 18q11-q12

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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

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

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

• Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes

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

• Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

Dr. Peter Penchev Papers

• Peroxisomal Impairment in Niemann Pick Type C
• NPC + Xanthomas

UCSF

• Genetic variations and treatments that affect the lifespan of the NPC1 mouse

University of Arizona

• The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts

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)

• Cholesterol-rich lipid rafts are required for release of infectious human respiratory syncytial virus particles

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
  

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