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MetabolomicsIAPP toxicity activates HIF1α/PFKFB3 signaling delaying β-cell loss at the expense of β-cell function
The islet in type 2 diabetes (T2D) is characterized by amyloid deposits derived from islet amyloid polypeptide (IAPP), a protein co-expressed with insulin by β-cells. In common with amyloidogenic proteins implicated in neurodegeneration, human IAPP (hIAPP) forms membrane permeant toxic oligomers imp...
2020-04-17 | MTBLS951 | MetaboLights
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
TranscriptomicsLoss of MeCP2 function is associated with distinct gene expression changes in the striatum
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by developmental regression around 6-18 months after birth, followed by a lifetime of intellectual disability, stereotyped behaviors, and motor deficits. RTT is caused by mutations in MeCP2, a methyl-CpG binding protein that was trad...
ORGANISM(S): Mus musculus 
2013-07-13 | E-GEOD-42895 | biostudies-arrayexpress
TranscriptomicsBacterial Adaptation Through Loss of Function
Transcriptional profiling of mutants with beneficial in-frame null mutations. The goal of the study is to understand how expression of the mutants and their parental strain differs in conditions where the mutations are beneficial. For each of two conditions (media with either glutamine or alanine a...
ORGANISM(S): Escherichia coli str. K-12 substr. MG1655 
2013-08-23 | E-GEOD-30345 | biostudies-arrayexpress
GenomicsMicrobotryum species with HD loss of function
Repeated loss of function of HD genes in Microbotryum
PRJNA1169769 | ENA
TranscriptomicsThe effect of progressive weight loss on metabolic function
The purpose of this study was to evaluate the effect of progressive weight loss (5, 10, 15% weight loss) on metabolic function such as multi-organ insulin sensitivity and beta-cell function in obese people. We conducted microarray analysis to determine the effect of progressive weight loss on adipos...
ORGANISM(S): Homo sapiens 
2016-02-26 | E-GEOD-70529 | biostudies-arrayexpress
TranscriptomicsToxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss
FUS is an RNA-binding protein involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Cytoplasmic FUS-containing aggregates are often associated with concomitant loss of nuclear FUS. Whether loss of nuclear FUS function, gain of a cytoplasmic function, or a combination of ...
ORGANISM(S): Mus musculus 
2016-03-14 | E-GEOD-78730 | biostudies-arrayexpress
GenomicsHomozygous loss-of-function variants in European cosmopolitan and isolate populations
Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival and reproduction. All humans carry at least a few HLOF variants, but the exact number of inactivated genes that can be tole...
EGAS00001001606 | EGA
GenomicsLoss-of-function mutants of timP toxin
Loss-of-function mutants of timP toxin
PRJNA1379319 | ENA
TranscriptomicsExpression data of Xrx1 gain and loss of function experiments from early Xenopus laevis embryos (stage 13)
Eye development is a multistep process that requires specific inductive signals and precise morphogenetic movements, starting early during development in the eye-field, a well-definite region of the anterior neural plate. It has been demonstrated that a gene network of eye field transcription factor...
ORGANISM(S): Xenopus laevis 
2013-09-23 | E-GEOD-35918 | biostudies-arrayexpress
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