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UnknownThe detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Borjeson-Forssman-Lehmann and White-Kernohan syndromes.
Not available
S-EPMC11186873 | biostudies-literature
MetabolomicsATP-binding Cassette Sub-family C Member 5 (ABCC5) Functions as an Efflux Transporter of Glutamate Conjugates and Analogs
The ubiquitous efflux transporter ATP-binding cassette sub-family C member 5 (ABCC5) is present at high levels in the blood-brain barrier, neurons and glia, but its function is not known. Untargeted metabolomic screens revealed that Abcc5-/- mice accumulate endogenous glutamate conjugates in several...
2015-11-02 | MTBLS197 | MetaboLights
MetabolomicsMultiple acyl-coA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection

The human pathogen Mycobacterium tuberculosis (Mtb) devotes a significant fraction of its genome to fatty acid metabolism. Although Mtb depends on host fatty acids as a carbon source, fatty acid b-oxidation is mediated by genetically redundant enzymes, which has hampered the development of antitu...

2021-09-29 | MTBLS2374 | MetaboLights
MetabolomicsAspartate aminotransferase Rv3722c governs aspartate-dependent nitrogen metabolism in Mycobacterium tuberculosis

Gene rv3722c of Mycobacterium tuberculosis is essential for in vitro growth, and encodes a putative pyridoxal phosphate-binding protein of unknown function. Here we use metabolomic, genetic and structural approaches to show that Rv3722c is the primary aspartate aminotransferase of M. tuberculosis...

2020-05-01 | MTBLS1559 | MetaboLights
UnknownDe-escalation strategies for non-pharmaceutical interventions following infectious disease outbreaks: a rapid review and a proposed dynamic de-escalation framework.
Not available
S-EPMC8444163 | biostudies-literature
ProteomicsDDA LC-MS/MS of reference human plasma and urine samples
Brief description of the data submitted: Three LC-MS/MS files acquired using Data Dependent Acquisition (DDA) for (1) NIST 1950 Frozen Human Plasma standard reference material subjected to reversed-phase chromatographic (RPC) metabolomic assay tailored for complex lipid separation; (2) plasma Long...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-11-04 | MSV000090642 | MassIVE
MetabolomicsLC-MS metabolic profiling of mouse plasma and cell culture medium in relation to ABCC6 expression
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding ABCC6 (MRP6), an ATP-dependent efflux transporter...
2013-11-14 | MTBLS61 | MetaboLights
ProteomicsThe interactome of a family of potential methyltransferases
Human methytransferase like proteins (METTL) are part of a large protein family characterized by the presence of binding domains for S-adenosyl methionine, a co-substrate in most methylation reactions. Despite the fact that members of this protein family were shown or predicted to be DNA, RNA or pro...
ORGANISM(S): Homo sapiens (Human) 
2019-05-06 | PXD011125 | Pride
Gfp affinity purifications Interaction proteomics Mass spectrometry Mettl 
ProteomicsMethyltransferase METTL5 interactome
Cellular RNAs are covalently modified and these modifications can impact on all biological processes and hence are implicated in different types of diseases. Amongst RNA modifications, N6-methyladenosine (m6A) is one of the most widespread and has been found on messenger (mRNA), ribosomal (rRNA), no...
ORGANISM(S): Homo sapiens (Human) 
2020-09-09 | PXD015582 | Pride
Hela Rna methyltranferase Interactome 
UnknownPhase I Imaging and Pharmacodynamic Trial of CS-1008 in Patients With Metastatic Colorectal Cancer.
Not available
S-EPMC4881374 | biostudies-literature
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