Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
34
datasets available to search
ShareScore release 0.9.0
Dataset results
34 results for “Niemann Pick C”
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C
<p>Abstract:</p> <p>Background: Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination. Niemann-Pick disease Type C1 (NPC1) is a lysosomal storage disorder presenting in childhood with neurological deterioration, liver damage and respiratory infections. Some NPC1 patients develop severe Crohn’s disease. Our objective was to investigate the safety and effectiveness of anti-TNF in NPC1 patients with Crohn’s disease.</p> <p>Methods: Retrospective data on phenotype and therapy response were collected from patients with genetically confirmed NPC1 defects and intestinal inflammation. We investigated TNF secretion in peripheral blood mononuclear cells treated with NPC1 inhibitor in response to bacterial stimuli.</p> <p>Results: NPC1 inhibitor treated PBMCs show significantly increased TNF production after lipopolysaccharide or bacterial challenge providing a rationale for anti-TNF therapy. We identified 5 NPC1 patients with CD-like intestinal inflammation treated using anti-TNF therapy (mean age of onset 8.6 years, mean treatment length 27.2 months, overall treatment period 11.3 patient years). Anti-TNF therapy was associated with reduced gastrointestinal symptoms with no apparent adverse neurological events. Therapy improved intestinal inflammation in 4 patients.</p> <p>Conclusion: Anti-TNF therapy appears safe in patients with NPC1 and is an effective treatment strategy for the management of intestinal inflammation in these patients.</p>
Supplementary data for: Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signalling in a Model of Niemann-Pick Disease Type C
<p>Supplementary example data for the work presented in "<em>Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signalling in a Model of Niemann-Pick Disease Type C</em>". </p> <p><strong>Abstract: </strong></p> <p>Simultaneously recording network activity and ultrastructural changes of the synapse is essential for advancing our understanding of the basis of neuronal functions. However, the rapid millisecond-scale fluctuations in neuronal activity and the subtle sub-diffraction resolution changes of synaptic morphology pose significant challenges to this endeavour. Here, we use specially designed graphene microelectrode arrays (G-MEAs), which are compatible with high spatial resolution imaging across various scales as well as permit high temporal resolution electrophysiological recordings to address these challenges. Furthermore, alongside G-MEAs, we have developed an easy-to-implement machine learning algorithm to efficiently process the large datasets collected from MEA recordings. We demonstrate that the combined use of G-MEAs, machine learning (ML) spike analysis, and four-dimensional (4D) structured illumination microscopy (SIM) enables monitoring the impact of disease progression on hippocampal neurons which have been treated with an intracellular cholesterol transport inhibitor mimicking Niemann-Pick disease type C (NPC), and show that synaptic boutons, compared to untreated controls, significantly increase in size, leading to a loss in neuronal signalling capacity.</p> <p> </p>
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
ClinicalTrials.gov study NCT00975689. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT03471143. IPD Sharing: NO. Countries: 1. Publications: 1.
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
ClinicalTrials.gov study NCT03759639. IPD Sharing: Not stated. Countries: 5. Publications: 3.
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT02612129. IPD Sharing: Not stated. Countries: 9. Publications: 2.
Data from: Are Niemann-Pick type C proteins key players in cnidarian-dinoflagellate endosymbioses?
The symbiotic interaction between cnidarians, such as corals and sea anemones, and the unicellular algae Symbiodinium is regulated by yet poorly understood cellular mechanisms, despite the ecological importance of coral reefs. These mechanisms, including host-symbiont recognition and metabolic exchange, control symbiosis stability under normal conditions, but also lead to symbiosis breakdown (bleaching) during stress. This study describes the repertoire of the sterol-trafficking proteins Niemann-Pick type C (NPC1 and NPC2) in the symbiotic sea anemone Anemonia viridis. We found one NPC1 gene instead of two in vertebrates. While only one NPC2 gene is present in most metazoans, this gene has been duplicated in cnidarians and we detected four NPC2 genes in A. viridis. However, only one gene (AvNPC2-d) was upregulated in symbiotic sea anemones and displayed higher expression in the gastrodermis (symbiont-containing tissue) than in the epidermis. We performed immunolabeling experiments on tentacle cross sections and demonstrated that the AvNPC2-d protein was closely associated with symbiosomes. In addition, AvNPC1 and AvNPC2-d gene expression was strongly downregulated during stress, especially at the onset of symbiosis breakdown. These data suggest that AvNPC2-d is involved in both the stability and dysfunction of cnidarian-dinoflagellate symbioses.
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
ClinicalTrials.gov study NCT02841358. IPD Sharing: Not stated. Countries: 1. Publications: 18.
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT05163288. IPD Sharing: NO. Countries: 8. Publications: 5.
Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease
ClinicalTrials.gov study NCT00316498. IPD Sharing: Not stated. Countries: 2. Publications: 1.
Application of Miglustat in Patients With Niemann-Pick Type C
ClinicalTrials.gov study NCT01760564. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients
ClinicalTrials.gov study NCT02912793. IPD Sharing: NO. Countries: 3. Publications: 30.
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT02435030. IPD Sharing: Not stated. Countries: 8. Publications: 1.
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT00344331. IPD Sharing: NO. Countries: 1. Publications: 5.
Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT03893071. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Data from: Are Niemann-Pick type C proteins key players in cnidarian-dinoflagellate endosymbioses?
Open the record for dataset details and reuse information.
Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous System
ClinicalTrials.gov study NCT03643562. IPD Sharing: NO. Countries: 1. Publications: 0.
INVESTIGATION OF DIPIRYDAMOLE-ELICITED SIGNALING IN THE BRAIN OF NIEMANN PICK TYPE C MICE: A MULTI-OMIC STUDY.
GEO Series GSE300629. Mus musculus. 24 samples. Type: Expression profiling by high throughput sequencing.
Biomarker for Niemann Pick Type C Disease (BioNPC)
ClinicalTrials.gov study NCT01306604. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT05588167. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.