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MetabolomicsDefective mitochondrial COX1 translation due to loss of COX14 function triggers ROS-induced inflammation in liver
Mitochondrial oxidative phosphorylation (OXPHOS) fuels cellular ATP demands. OXPHOS defects lead to severe human disorders with unexplained tissue specific pathologies. Mitochondrial gene expression is essential for OXPHOS biogenesis since core subunits of the complexes are mitochondrial-encoded. CO...
2024-07-19 | MTBLS9823 | MetaboLights
MetabolomicsNeuronal Hyperactivity due to Loss of Inhibitory Tone in APOE4 Mice Lacking Alzheimer’s Disease-like Pathology
Metabolite profiling was performed on metabolites extracted from the entorhinal cortex and primary visual cortex of 14-15 month old APOE3/3, APOE3/4 and APOE4/4 mice. Metabolites were run on a TOF Mass Spectrometer using an ANP column. Initial analysis was done in an untargeted manner, and processin...
2017-09-05 | MTBLS530 | MetaboLights
MetabolomicsGlobal untargeted serum metabolomic analyses nominate metabolic pathways responsive to loss of expression of the orphan metallo beta-lactamase, MBLAC1
The C. elegans gene swip-10 encodes an orphan metallo beta-lactamase that genetic studies indicate is vital for limiting neuronal excitability and viability. Sequence analysis indicates that the mammalian gene Mblac1 is the likely ortholog of swip-10, with greatest sequence identity localized...
2019-03-12 | MTBLS650 | MetaboLights
TranscriptomicsQuantification of Normal Cell Fraction and Copy Number Neutral LOH in Clinical Lung Cancer Samples Using SNP Array Data
Technologies based on DNA microarrays have the potential to provide detailed information on genomic aberrations in tumor cells. In practice a major obstacle for quantitative detection of aberrations is the heterogeneity of clinical tumor tissue. Tumor tissue consists of a mixture of tumor cells and ...
ORGANISM(S): Homo sapiens 
2010-04-09 | E-GEOD-16092 | biostudies-arrayexpress
TranscriptomicsSNP arrays in matched diagnosis/remission samples of normal karyotype-acute myeloid leukemia
We analysed, by last-generation high-resolution SNP arrays, Normal Karyotype (NK)-AML patients at diagnosis (Dx) and remission (R) phases, in order to determine the number of tumor-associated copy number abnormalities (CNAs) and copy neutral-loss of heterozygosity (CN-LOH) regions per patient and to...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21780 | biostudies-arrayexpress
ProteomicsImproved discrimination of asymmetric and symmetric protein arginine dimethylation by optimizing the normalized collision energy in LC-MS proteomics
Here we optimize the HCD Normalized Collision Energy (NCE) in order to generate neutral losses of monomethylamine and dimethylamine which can be lost by symmetric dimethylarginine and asymmetric dimethylarginine, respectively. By testing a range of NCEs across two different methyl enrichment techniq...
ORGANISM(S): Homo sapiens (Human) 
2020-05-27 | PXD017193 | Pride
Arginine Prmt Mass spectrometry Methylation Adma Ptm Hcd Neutral loss Proteomics Sdma Lcms 
GenomicsPrimary mediastinal large B-cell lymphoma is hallmarked by large-scale copy-neutral loss of heterozygosity
Primary mediastinal large B-cell lymphoma is hallmarked by large-scale copy-neutral loss of heterozygosity
PRJNA763590 | ENA
ProteomicsOff-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases
Lysosomal acid lipase (LAL) is the key enzyme of lysosomal lipid hydrolysis, which degrades cholesteryl esters (CE), triacylglycerols (TG), diacylglycerols (DG), and retinyl esters. The role of LAL in various cellular processes has mostly been studied in LAL-deficient (Lal-/-) mice, which share phen...
ORGANISM(S): Mus musculus (Mouse) 
2022-05-13 | PXD030672 | Pride
Lal  lipolysis  lipid hydrolase activity  atgl  hsl  mgl 
GenomicsLoss of ER and nuclear envelope-associated neutral sphingomyelinase SMPD4 causes a severe neurodevelopmental disorder with microcephaly and congenital arthrogryposis
Loss of ER and nuclear envelope-associated neutral sphingomyelinase SMPD4 causes a severe neurodevelopmental disorder with microcephaly and congenital arthrogryposis
PRJNA550547 | ENA
MetabolomicsMetabolomics highlights reduced glutamate and acetylcarnitine in the amniotic fluid of cytomegalovirus-infected pregnant women

Cytomegalovirus (CMV) is a ubiquitous infectious agent that causes significant morbidity in immunosuppressed hosts and is the most common cause of neonatal congenital deafness.An infection acquired during pregnancy can be vertically transmitted to the fetus and cause permanent sequelae in the new...

2025-09-12 | MTBLS12415 | MetaboLights
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