Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
Authors
Keywords
Cyclodextrin, Collaborative science, Drug pipeline, Lysosomal disease, Miglustat, Niemann-Pick C, Patient advocacy, Rare disease, Therapy development, Translational medicine
Journal
Orphanet Journal of Rare Diseases
Volume 11, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-12-01
DOI
10.1186/s13023-016-0540-x
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1
- (2016) Forbes D. Porter et al. MOLECULAR GENETICS AND METABOLISM
- Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
- (2016) Marie T. Vanier et al. MOLECULAR GENETICS AND METABOLISM
- Development of a bile acid–based newborn screen for Niemann-Pick disease type C
- (2016) Xuntian Jiang et al. Science Translational Medicine
- High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
- (2015) Christopher A. Wassif et al. GENETICS IN MEDICINE
- 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
- 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
- Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1)
- (2014) Brett Tortelli et al. HUMAN MOLECULAR GENETICS
- Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study
- (2013) P. Bauer et al. HUMAN MOLECULAR GENETICS
- δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders
- (2012) Miao Xu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
- (2012) Veronika M. Stein et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight
- (2012) Stephanie M. Cologna et al. PLoS One
- Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C
- (2011) Sharon Zhou et al. AMERICAN JOURNAL OF PATHOLOGY
- Niemann-Pick disease type C
- (2010) Marie T Vanier Orphanet Journal of Rare Diseases
- 2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease
- (2010) Sarah Ward et al. PEDIATRIC RESEARCH
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
- (2010) F. D. Porter et al. Science Translational Medicine
- Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
- (2009) Cristin D. Davidson et al. PLoS One
- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search