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5,381 results for “deficiencies”
Pyruvate transamination and NAD biosynthesis enable proliferation of succinate dehydrogenase-deficient cells by supporting aerobic glycolysis
<p>Data supporting results published by Ricci et al. Pyruvate transamination and NAD biosynthesis enable proliferation of succinate dehydrogenase-deficient cells by supporting aerobic glycolysis. Cell Death and Disease (2023) 14:403 (https://doi.org/10.1038/s41419-023-05927-5).</p>
Ultrasound Vevo 2100 data on ascending and abdominal aneurysms in ApoE-deficient mice - baseline and early stage
<p>This dataset contains raw data of ultrasound measurements taken of the ascending and abdominal aorta of Ang II-infused mice. Data were taken at baseline (prior to pump implantation) and at an early stage of disease development. Data can be openend with the Vevo 2100 analysis software provided by Fujifilm.</p> <p> </p> <p> </p>
Vitamin B12 deficiency anaemia and gestational diabetes mellitus: a two-sample Mendelian randomization study
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SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization - yet unpublished supplementary data
<p>The upload contains raw data files used for the article "SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization".</p> <p><strong>Article abstract</strong></p> <p>Nucleotide sugar transporters (NSTs) are multitransmembrane proteins, localized in the Golgi apparatus and/or endoplasmic reticulum, which provide glycosylation enzymes with their substrates. It has been demonstrated that NSTs may form complexes with functionally related glycosyltransferases, especially in the N-glycosylation pathway. However, potential interactions of NSTs with enzymes mediating the biosynthesis of mucin-type O-glycans have not been addressed to date. Here we report that UDP-galactose transporter (UGT; SLC35A2) associates with core 1 β-1,3-galactosyltransferase 1 (C1GalT1; T-synthase). This provides the first example of an interaction between an enzyme that acts exclusively in the O-glycosylation pathway and an NST. We also found that SLC35A2 associated with the C1GalT1-specific chaperone Cosmc, and that the endogenous Cosmc was localized in both the endoplasmic reticulum and Golgi apparatus of wild-type HEK293T cells. Furthermore, in SLC35A2-deficient cells protein levels of C1GalT1 and Cosmc were decreased and their Golgi localization was less pronounced. Finally, we identified SLC35A2 as a novel molecular target for the antifungal agent itraconazole. Based on our findings we propose that NSTs may contribute to the stabilization of their interaction partners and help them to achieve target localization in the cell, most likely by facilitating their assembly into larger functional units. </p> <p>The Word document (Data description.docx) contains a description of each file.</p>
Dataset related to: Sirtuin 3 Deficiency Aggravates Kidney Disease in Response to High-Fat Diet through Lipotoxicity-Induced Mitochondrial Damage
<p>The files contain all the dataset included in the manuscript divided by figures.</p> <p> </p> <p>Abstract: Sirtuin 3 (SIRT3) is the primary mitochondrial deacetylase that controls the antioxidant<br>pathway and energy metabolism. We previously found that renal Sirt3 expression and activity were<br>reduced in mice with type 2 diabetic nephropathy associated with oxidative stress and mitochondrial<br>abnormalities and that a specific SIRT3 activator improved renal damage. SIRT3 is modulated by<br>diet, and to assess whether Sirt3 deficiency aggravates mitochondrial damage and accelerates kidney<br>disease in response to nutrient overloads, wild-type (WT) and Sirt3-/- mice were fed a high-fat-diet<br>(HFD) or standard diet for 8 months. Sirt3-/- mice on HFD exhibited earlier and more severe<br>albuminuria compared to WT mice, accompanied by podocyte dysfunction and glomerular capillary<br>rarefaction. Mesangial matrix expansion, tubular vacuolization and inflammation, associated with<br>enhanced lipid accumulation, were more evident in Sirt3-/- mice. After HFD, kidneys from Sirt3-/-<br>mice showed more oxidative stress than WT mice, mitochondria ultrastructural damage in tubular<br>cells, and a reduction in mitochondrial mass and energy production. Our data demonstrate that Sirt3<br>deficiency renders mice more prone to developing oxidative stress and mitochondrial abnormalities<br>in response to HFD, resulting in more severe kidney diseases, and this suggests that mitochondria<br>protection may be a method to prevent HFD-induced renal injury.</p>
Directed Stepwise Tracing of Polysynaptic Neuronal Circuits With Replication-deficient Pseudorabies Virus
<p>Data for paper: Directed Stepwise Tracing of Polysynaptic Neuronal Circuits With Replication-deficient Pseudorabies Virus.</p> <p>Brain functions are accomplished by polysynaptic circuits formed by neurons wired together through multiple orders of synaptic connections. Polysynaptic connectivity has been difficult to examine due to a lack of methods of continuously tracing the pathways in a controlled manner. Here we demonstrate directed, stepwise retrograde polysynaptic tracing by inducible reconstitution of replication-deficient transneuronal pseudorabies virus (PRV<sup>∆IE</sup>) in the brain. Furthermore, PRV<sup>∆IE</sup> replication can be temporally restricted to minimize its neurotoxicity. With this tool, we delineate a wiring diagram between the hippocampus and striatum-- two major brain systems for learning, memory and navigation--which consist of projections from specific hippocampal domains to specific striatal areas via distinct intermediate brain regions. Therefore, this inducible PRV<sup>∆IE </sup>system provides a tool for dissecting polysynaptic circuits underlying complex brain functions.</p>
Cystine/glutamate antiporter system Xc- deficiency impairs macrophage glutathione metabolism and cytokine production.
<p>Raw Data for Publication "Cystine/glutamate antiporter system Xc- deficiency impairs macrophage glutathione metabolism and cytokine production."</p>
A biobank of patients with Primary Immune Deficiencies (PID)
<pre>A biobank of patients with Primary Immune Deficiencies (PID).</pre>
Non-systematic surveys reveal increases in areas occupied by endangered and data-deficient Nubian bustard
<p>This repository contains the R scripts and data to reproduce the analysis of the manuscript <a href="https://doi.org/10.1016/j.gecco.2023.e02682">https://doi.org/10.1016/j.gecco.2023.e02682</a></p>
Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency
ClinicalTrials.gov study NCT02292654. IPD Sharing: YES. Countries: 6. Publications: 1.
Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
ClinicalTrials.gov study NCT02004691. IPD Sharing: YES. Countries: 17. Publications: 1.
A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
ClinicalTrials.gov study NCT02004704. IPD Sharing: YES. Countries: 7. Publications: 3.
A Study of Rucaparib Versus Physician's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency
ClinicalTrials.gov study NCT02975934. IPD Sharing: YES. Countries: 12. Publications: 3.
A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUD
ClinicalTrials.gov study NCT03694275. IPD Sharing: YES. Countries: 1. Publications: 1.
A Study of Rucaparib in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency
ClinicalTrials.gov study NCT02952534. IPD Sharing: YES. Countries: 12. Publications: 4.
Data from: Offspring behavioral outcomes following maternal allergic asthma in the IL-4-deficient mouse
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Dataset related to article "IL1R8 Deficiency Drives Autoimmunity-Associated Lymphoma Development."
<p>Chronic inflammation, including that driven by autoimmunity, is associated with the development of B-cell lymphomas. IL1R8 is a regulatory receptor belonging to the IL1R family, which negatively regulates NF-κB activation following stimulation of IL1R or Toll-like receptor family members. IL1R8 deficiency is associated with the development of severe autoimmune lupus-like disease in <em>lpr</em> mice. We herein investigated whether concomitant exacerbated inflammation and autoimmunity caused by the deficiency of IL1R8 could recapitulate autoimmunity-associated lymphomagenesis. We thus monitored B-cell lymphoma development during the aging of IL1R8-deficient <em>lpr</em> mice, observing an increased lymphoid cell expansion that evolved to diffuse large B-cell lymphoma (DLBCL). Molecular and gene-expression analyses showed that the NF-κB pathway was constitutively activated in <em>Il1r8</em> <sup>-/-</sup>/<em>lpr</em> B splenocytes. In human DLBCL, <em>IL1R8</em> had reduced expression compared with normal B cells, and higher <em>IL1R8</em> expression was associated with a better outcome. Thus, <em>IL1R8</em> silencing is associated with increased lymphoproliferation and transformation in the pathogenesis of B-cell lymphomas associated with autoimmunity.</p>
Data from: Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells
<p>CSV files of whole-Genome Knockout Screens for Proliferation and Tumorigenic Growth. The data is retrieved from:</p> <p>Title: "Genome-wide Screens Implicate Loss of Cullin Ring Ligase 3 in Persistent Proliferation and Genome Instability in TP53-Deficient Cells"</p> <p>DOI: https://doi.org/10.1016/j.celrep.2020.03.029</p> <p>The excel sheet with data shown in figure 1B is converted to CSV files.</p>
Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency
Human sepiapterin reductase deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of sepiapterin reductase deficiency. A point mutation in the BmSPR gene led to a five amino acid deletion at the carboxyl terminus in the lemon mutant. In addition, classical phenotypes seen in sepiapterin reductase deficient patients were observed in the lemon mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that replenishment of L-dopa significantly increased the dopamine level in the lemon mutant. The silkworm lemon mutant also showed negative behavioral abilities. These results suggest that the silkworm lemon mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of sepiapterin reductase deficiency. Thus, the silkworm lemon mutant can serve as a candidate animal model of sepiapterin reductase deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of sepiapterin reductase deficiency.
Data from: Safety of single low-dose primaquine in glucose-6-phosphate dehydrogenase deficient falciparum-infected African males: two open-label, randomized, safety trials
Background: Primaquine (PQ) actively clears mature Plasmodium falciparum gametocytes but in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals can cause hemolysis. We assessed the safety of low-dose PQ in combination with artemether-lumefantrine (AL) or dihydroartemisinin-piperaquine (DP) in G6PDd African males with asymptomatic P. falciparum malaria. Methods and findings: In Burkina Faso, G6PDd adult males were randomized to treatment with AL alone (n = 10) or with PQ at 0.25 (n = 20) or 0.40 mg/kg (n = 20) dosage; G6PD-normal males received AL plus 0.25 (n = 10) or 0.40 mg/kg (n = 10) PQ. In The Gambia, G6PDd adult males and boys received DP alone (n = 10) or with 0.25 mg/kg PQ (n = 20); G6PD-normal males received DP plus 0.25 (n = 10) or 0.40 mg/kg (n = 10) PQ. The primary study endpoint was change in hemoglobin concentration during the 28-day follow-up. Cytochrome P-450 isoenzyme 2D6 (CYP2D6) metabolizer status, gametocyte carriage, haptoglobin, lactate dehydrogenase levels and reticulocyte counts were also determined. In Burkina Faso, the mean maximum absolute change in hemoglobin was -2.13 g/dL (95% confidence interval [CI], -2.78, -1.49) in G6PDd individuals randomized to 0.25 PQ mg/kg and -2.29 g/dL (95% CI, -2.79, -1.79) in those receiving 0.40 PQ mg/kg. In The Gambia, the mean maximum absolute change in hemoglobin concentration was -1.83 g/dL (95% CI, -2.19, -1.47) in G6PDd individuals receiving 0.25 PQ mg/kg. After adjustment for baseline concentrations, hemoglobin reductions in G6PDd individuals in Burkina Faso were more pronounced compared to those in G6PD-normal individuals receiving the same PQ doses (P = 0.062 and P = 0.022, respectively). Hemoglobin levels normalized during follow-up. Abnormal haptoglobin and lactate dehydrogenase levels provided additional evidence of mild transient hemolysis post-PQ. Conclusions: Single low-dose PQ in combination with AL and DP was associated with mild and transient reductions in hemoglobin. None of the study participants developed moderate or severe anemia; there were no severe adverse events. This indicates that single low-dose PQ is safe in G6PDd African males when used with artemisinin-based combination therapy.
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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.