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MetabolomicsDeletion of glycerol channel aquaporin-9 (Aqp9) impairs long-term blood glucose control in C57BL/6 leptin receptor-deficient (db/db) obese mice
Deletion of the glycerol channel aquaporin-9 (Aqp9) reduces postprandial blood glucose levels in leptin receptor deficient (db/db) obese mice on a C57BL/6×C57BLKS mixed genetic background. Furthermore, shRNA mediated reduction of Aqp9 expression reduces liver triacylglycerol (TAG) accumulation in a ...
2015-09-28 | MTBLS219 | MetaboLights
UnknownFirst molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
Not available
S-EPMC6131905 | biostudies-literature
ProteomicsProteomics after co-immunoprecipitation of myosin/MHC B/UNC-54 (with a Gly387Arg mutation) from C. elegans worms grown on nhl-1 or F40A3.6 RNAi compared to control RNAi
This project includes 20 samples after immunoprecipitation of C. elegans myosin heavy chain B (MHC B/UNC-54/F11C3.3, UniProt P02566 with a Gly387Arg mutation) in 4 replicates of 4 conditions. Lysates from a myosin-misfolding C. elegans strain (unc-54(e1301) with a Gly387Arg substitution in MHC B) gr...
ORGANISM(S): Caenorhabditis elegans 
2024-07-16 | PXD045076 | Pride
Myosin C. elegans Co-immunoprecipitation Rnai Interactome Muscle 
UnknownMitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease.
Not available
S-EPMC10571982 | biostudies-literature
TranscriptomicsTranscription profiling of C. elegans specific cells from the nervous system.
Background: With its fully sequenced genome and simple, well-defined nervous system, the nematode C. elegans offers a unique opportunity to correlate gene expression with neuronal differentiation. The lineal origin, cellular morphology and synaptic connectivity of each of the 302 neurons are known....
ORGANISM(S): Caenorhabditis elegans 
2008-06-15 | E-GEOD-8004 | biostudies-arrayexpress
TranscriptomicsPRPF8 CLIP seq for iPSC, kidney organoid, retinal organoid, and retinal epithelium derived from c.6926A>C RPE with Retinitis Pigmentosa patients and CRISPR/Cas9 corrected
Retinitis Pigmentosa is a group of inherited eye disorders characterized by progressive degeneration of photoreceptor cells in the retina, leading to vision loss and eventual blindness. One of the known genetic mutations associated with RP is the c.6926A>C mutation in the RPE (retinal pigment epithe...
ORGANISM(S): Homo sapiens 
2024-03-13 | E-MTAB-13171 | biostudies-arrayexpress
ProteomicsMitochondrial dysfunction in Machado Joseph Disease: insights from a multi-model system
Spinocerebellar ataxia type-3 (SCA3), also known as Machado Joseph disease, MJD) is a fatal, neurodegenerative disease belonging to the polyglutamine repeat disease family, caused by inheritance of an abnormal form of the ATXN3 gene, carrying a longer than usual trinucleotide repeat sequence. Within...
ORGANISM(S): Mus musculus (Mouse) 
2026-08-24 | PXD063591 | Pride
Oxidative phosphorylation Atxn3 Mjd Mitochondria Machado joseph disease Mouse Polyq Neurodegeneration 
ProteomicsC. elegans - starvation and UV
DNA damage comprises a causal factor for aging and aging-associated diseases. Defects in genome maintenance pathways give rise to a variety of human congenital syndromes that are characterized by growth retardation, cancer susceptibility, and accelerated aging. The specific consequences of unrepaire...
ORGANISM(S): Caenorhabditis elegans 
2017-08-22 | PXD005649 | Pride
Uv Phosphorpteomics and proteomics Starvation C. elegans 
UnknownGST-4-Dependent Suppression of Neurodegeneration in C. elegans Models of Parkinson's and Machado-Joseph Disease by Rapeseed Pomace Extract Supplementation.
Not available
S-EPMC6811615 | biostudies-literature
TranscriptomicsTranscription profiling of C. elegans embryonic muscle
Background: ; The force generating mechanism of muscle is evolutionarily ancient; the fundamental structural and functional components of the sarcomere are common to motile animals throughout phylogeny. Recent evidence suggests that the transcription factors that regulate muscle development are also...
ORGANISM(S): Caenorhabditis elegans 
2008-06-16 | E-GEOD-8231 | biostudies-arrayexpress
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