{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(10)"],"submitter":["van der Walt G"],"pubmed_abstract":["Direct injury of mitochondrial respiratory chain (RC) complex I by Ndufs4 subunit mutations results in complex I deficiency (CID) and a progressive encephalomyopathy, known as Leigh syndrome. While mitochondrial, cytosolic and multi-organelle pathways are known to be involved in the neuromuscular LS pathogenesis, compartment-specific metabolomics has, to date, not been applied to murine models of CID. We thus hypothesized that sub-cellular metabolomics would be able to contribute organelle-specific insights to known Ndufs4 metabolic perturbations. To that end, whole brains and skeletal muscle from late-stage Ndufs4 mice and age/sex-matched controls were harvested for mitochondrial and cytosolic isolation. Untargeted 1H-NMR and semi-targeted LC-MS/MS metabolomics was applied to the resultin"],"journal":["Metabolites"],"pagination":["658"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8537744"],"repository":["biostudies-literature"],"pubmed_title":["Sub-Cellular Metabolomics Contributes Mitochondria-Specific Metabolic Insights to a Mouse Model of Leigh Syndrome."],"pmcid":["PMC8537744"],"pubmed_authors":["Louw R","Lindeque JZ","van der Walt G","Mason S"],"additional_accession":[]},"is_claimable":false,"name":"Sub-Cellular Metabolomics Contributes Mitochondria-Specific Metabolic Insights to a Mouse Model of Leigh Syndrome.","description":"Direct injury of mitochondrial respiratory chain (RC) complex I by Ndufs4 subunit mutations results in complex I deficiency (CID) and a progressive encephalomyopathy, known as Leigh syndrome. While mitochondrial, cytosolic and multi-organelle pathways are known to be involved in the neuromuscular LS pathogenesis, compartment-specific metabolomics has, to date, not been applied to murine models of CID. We thus hypothesized that sub-cellular metabolomics would be able to contribute organelle-specific insights to known Ndufs4 metabolic perturbations. To that end, whole brains and skeletal muscle from late-stage Ndufs4 mice and age/sex-matched controls were harvested for mitochondrial and cytosolic isolation. Untargeted 1H-NMR and semi-targeted LC-MS/MS metabolomics was applied to the resultin","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2025-04-20T02:03:32.335Z","creation":"2025-04-20T02:03:32.335Z"},"accession":"S-EPMC8537744","cross_references":{"pubmed":["34677373"],"doi":["10.3390/metabo11100658"]}}