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ProteomicsDisease-linked lysine glutarylation impairs function and interactions of mitochondrial proteins and contribute to mitochondrial heterogeneity
Inherited deficiencies of the lysine and tryptophan catabolic pathways, due to mutations in the glutaryl-CoA-dehydrogenase (GCDH) gene, cause glutaric aciduria type 1 (GA1). In mammals two metabolic routes for L-lysine oxidation exist, the mitochondrial saccharopine pathway, which is predominant in ...
ORGANISM(S): Mus musculus (Mouse) 
2018-07-11 | PXD007881 | Pride
Metabolism Molecular biology of disease Protein interaction Glutaryl-coa-dehydrogenase Glutaryl-proteome Proteolysis & proteomics Post-translational modifications Glutamate dehydrogenase 
TranscriptomicsExpression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates
Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cyt...
ORGANISM(S): Mus musculus 
2014-01-29 | E-GEOD-43854 | biostudies-arrayexpress
UnknownValidation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group.
Not available
S-EPMC4803133 | biostudies-literature
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