ReviewJournal of applied genetics2013
Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.
Review in Journal of applied genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- Unveiling Lipid Dysregulation: Lipidomics of Mouse Brain and Isolated Myelin in Niemann-Pick Disease Type C1.bioRxiv : the preprint server for biology · 2026Article
- Treatment trials in Niemann-Pick type C disease.Metabolic brain disease · 2021Review
- Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.International journal of molecular sciences · 2021Article
- Haploinsufficiency of tau decreases survival of the mouse model of Niemann-Pick disease type C1 but does not alter tau phosphorylation.Journal of applied genetics · 2020Article
- Decreased neural stem cell proliferation and olfaction in mouse models of Niemann-Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin.Journal of applied genetics · 2019Article
- Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.Metabolic brain disease · 2019Review
- Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?Journal of applied genetics · 2018Review
- A pilot study of direct delivery of hydroxypropyl-beta-cyclodextrin to the lung by the nasal route in a mouse model of Niemann-Pick C1 disease: motor performance is unaltered and lung disease is worsened.Journal of applied genetics · 2018Article
- The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity.Endocrine reviews · 2018Review
- Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.Orphanet journal of rare diseases · 2017Article
- AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.Journal of lipid research · 2017Article
- Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.Brain research · 2017Review
- A 13-year old female with intractable seizures.Brain pathology (Zurich, Switzerland) · 2015Article
- Systemic administration of 2-hydroxypropyl-β-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function.Clinical and experimental pharmacology & physiology · 2014Article
- Genetic and laboratory diagnostic approach in Niemann Pick disease type C.Journal of neurology · 2014Review
- Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease.Biochimica et biophysica acta · 2014Article
- Raft-like membranes from the trans-Golgi network and endosomal compartments.Nature protocols · 2013Article
- Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C.Disease models & mechanisms · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
There has been a recent explosion in research on Niemann-Pick type C disease. Much of the work has used mouse models or cells in culture to elucidate the pathophysiological mechanisms resulting in the phenotype of the disease. This work has generated several contrasting views on the mechanism, which are labeled 'controversies' here. In this review, two of these controversies are explored. The first concerns which stored materials are causative in the disease: cholesterol, gangliosides and sphingolipids, or something else? The second concerns which cells in the body require Npc1 in order to function properly: somatic cells, neurons only, or neurons and glia? For the first controversy, a clear answer has emerged. More research will be needed in order to definitively solve the second controversy.
Indexed as
Identifiers
23292954What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.