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ShareScore release 0.9.0
Dataset results
8 results for “congenital disorders of glycosylation”
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
<p>The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the <em>STX5</em> mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine and Stx5 Short (Stx5S) from an alternative starting methionine at position 55. In this study, we identified a novel human disorder caused by a single missense substitution in the second starting methionine (p.M55V), resulting in complete loss of the short isoform. Patients suffer from an early fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation. Primary human dermal fibroblasts isolated from these patients showed defective glycosylation, altered Golgi morphology as measured by electron microscopy and mislocalization of glycosyltransferases. Measurements of anterograde trafficking, based on biotin-synchronizable forms of Stx5 (the RUSH system), and of cognate binding SNAREs, based on Förster resonance energy transfer (FRET), revealed that the short isoform of Stx5 is essential for intra-Golgi transport. This is the first time a mutation in an alternative starting codon is linked to human disease, demonstrating that the site of translation initiation is an important new layer of regulating protein trafficking.</p>
Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
ClinicalTrials.gov study NCT03560570. IPD Sharing: NO. Countries: 1. Publications: 0.
Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
ClinicalTrials.gov study NCT02955264. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Gene expression profile of PMM2_CDG (Congenital Disorder of Glycosylation) B lymphoblastoid cell lines (B-LCL)
GEO Series GSE145082. Homo sapiens. 14 samples. Type: Expression profiling by array.
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
ClinicalTrials.gov study NCT04199000. IPD Sharing: YES. Countries: 1. Publications: 0.
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
ClinicalTrials.gov study NCT02089789. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
ClinicalTrials.gov study NCT04198987. IPD Sharing: YES. Countries: 1. Publications: 0.
Expression data from Congenital disorders of Glycosylation type-1 patients (CDG-I)
GEO Series GSE8440. Homo sapiens. 36 samples. Type: Expression profiling by array.
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Allen Brain Atlas
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DANDI Archive for NWB datasets
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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.