Metabolite identification was performed using MSDIAL software. The extracted features were annotated by accurate mass matching with a mass tolerance of <10 ppm and MS/MS spectral matching with a mass tolerance of <0.01 Da. The annotation was conducted against public metabolite databases, including HMDB, MassBank, and GNPS, as well as the in-house Bioprofile metabolite standards database (BP-DB).
"],"repository":["MetaboLights"],"study_status":["Public"],"ptm_modification":[""],"instrument_platform":["Liquid Chromatography MS - negative - reverse-phase","Liquid Chromatography MS - positive - reverse-phase"],"chromatography_protocol":["Chromatographic separation was performed using a SHIMADZU-LC30 ultra-high-performance liquid chromatography system. Samples were analyzed on an ACQUITY UPLC HSS T3 column (2.1 × 100 mm, 1.8 μm; Waters, Milford, MA, USA). During analysis, the samples were maintained in the autosampler at 4°C. The injection volume was 4 μL, the column temperature was 40°C, and the flow rate was 0.3 mL/min. Mobile phase A was 0.1% formic acid in water, and mobile phase B was acetonitrile. The gradient elution program was as follows: 0–2 min, 0% B; 2–6 min, 0–48% B; 6–10 min, 48–100% B; 10–12 min, 100% B; 12–12.1 min, 100–0% B; and 12.1–15 min, 0% B.
"],"publication":["Genetic Ablation of Sfxn5 Induces Mitochondrial Dysfunction and Precipitates Lethal Metabolic Crisis in Mice."],"submitter_affiliation":["Peking University"],"submitter_name":["Duo Keai"],"organism_part":["Liver","brain"],"technology_type":["mass spectrometry assay"],"disease":[""],"extraction_protocol":["Tissue samples were thawed at 4°C, and 50 mg of each sample was transferred into an EP tube. Three medium steel beads and 200 μL of pre-cooled 80% methanol aqueous solution were added, and the samples were homogenized using a tissue disruptor. Subsequently, 800 μL of pre-cooled 80% methanol aqueous solution was added, followed by ultrasonic extraction in an ice bath for 20 min. The samples were then incubated at 20°C for 1 h and centrifuged at 16,000 × g for 20 min at 4°C. The supernatant was collected and dried using a high-speed vacuum concentrator. Before mass spectrometry analysis, the dried extracts were reconstituted in 100 μL methanol/water solution (1:1, v/v), centrifuged at 20,000 × g for 15 min at 4°C, and the supernatant was used for analysis.
"],"organism":["Mus musculus"],"full_dataset_link":["https://www.ebi.ac.uk/metabolights/MTBLS14628"],"author":["Chunguang Ren. Chongqing Medical University. chunguangren@cqmu.edu.cn.","Huan Zhang. Chongqing Medical University. 191109@hospital.cqmu.edu.cn."],"data_transformation_protocol":["Raw data were processed using MSDIAL software for peak alignment, retention time correction, and peak area extraction. Metabolite annotation was performed by matching accurate mass with a mass tolerance of <10 ppm and MS/MS spectra with a mass tolerance of <0.01 Da against public databases, including HMDB, MassBank, and GNPS, as well as the in-house Bioprofile metabolite standards database (BP-DB). Ion peaks with more than 50% missing values within a group were removed before statistical analysis. Positive- and negative-ion data were normalized separately by total peak area, integrated, and then analyzed using Python software. The data were preprocessed by unit variance scaling before subsequent data analysis.
"],"study_factor":["Group"],"submitter_email":["keaiduoduo998@126.com"],"sample_collection_protocol":["Brain and liver tissues were harvested from WT and Sfxn5-knockout mouse pups at postnatal day 26. Samples were immediately snap-frozen in liquid nitrogen after collection and stored at 80°C until analysis. Six biological replicates were analyzed for each tissue and genotype group, including WT brain, Sfxn5-knockout brain, WT liver, and Sfxn5-knockout liver. Prior to metabolite extraction, tissue samples were thawed at 4°C, and approximately 50 mg of each sample was processed.
"],"omics_type":["Metabolomics"],"study_design":["Metabolomics","SHIMADZU-LC30 UHPLC","Mus musculus","untargeted analysis","Liver","Urea cycle","tissue","Metabolism","brain","Sfxn5","Hepatic metabolic crisis","Mitochondrial disorder","Thermo Scientific QE Plus"],"curator_keywords":["Metabolomics","SHIMADZU-LC30 UHPLC","Mus musculus","untargeted analysis","Liver","Urea cycle","tissue","Metabolism","brain","Sfxn5","Hepatic metabolic crisis","Mitochondrial disorder","Thermo Scientific QE Plus"],"mass_spectrometry_protocol":["Mass spectrometric analysis was performed using a QE Plus mass spectrometer (Thermo Scientific) equipped with a HESI source. Each sample was analyzed in both positive and negative electrospray ionization modes after UPLC separation. The ionization parameters were as follows: spray voltage, 3.8 kV in positive mode and 3.2 kV in negative mode; capillary temperature, 320°C; sheath gas, 30; auxiliary gas, 5; probe heater temperature, 350°C; and S-lens RF level, 50. The mass spectrometry acquisition time was 15 min, and the precursor ion scan range was 70–1050 m/z. The MS1 resolution was 70,000 at m/z 200, with an AGC target of 3e6 and a maximum injection time of 100 ms. For MS/MS acquisition, the 10 most intense precursor ions were selected for MS2 scans after each full scan. The MS2 resolution was 17,500 at m/z 200, with an AGC target of 1e5, a maximum injection time of 50 ms, HCD activation, an isolation window of 2 m/z, and stepped normalized collision energies of 20, 30, and 40.
"],"metabolite_name":["2-((3-ethoxy-3-oxopropanoyl)oxy)-N,N,N-trimethylethan-1-aminium","6-Methoxy-pyridine-3-carboxylic acid","Spectral Match to Phe-Tyr from NIST14","Plantagonine","p-Mentha-1,3,5,8-tetraene","Corticosterone","Oct-5-enedioylcarnitine","Oroxin B","N-Fructosyl isoleucine","Guaiacol","Ectoine","2,5-Dimethyl-3-hexyne-2,5-diol","Albuterol","(2S,4R)-4-hydroxy-1-[(2S)-pyrrolidine-2-carbonyl]pyrrolidine-2-carboxylic acid","Citrulline","1,5-Naphthalenediamine","2,3-Dimethyl-2-cyclohexen-1-one","2-(2-aminoacetamido)-3-methylpentanoic acid","5-Hydroxy-DL-lysine","Spectral Match to Phe-Pro from NIST14","Ademetionine","N-Benzoyl-L-glutamic acid","Cyclopentylamine","Prostaglandin E2","7b,9-Dihydroxy-3-(hydroxymethyl)-1,1,6,8-tetramethyl-5-oxo-1,1a,1b,4,4a,5,7a,7b,8,9-decahydro-9ah-cyclopropa[3,4]benzo[1,2-e]azulen-9a-yl acetate","Cyclododecalactam","Spectral Match to Lys-Ile from NIST14","2,4-Thiazolidinedicarboxylic acid, 2-methyl-","Arginine","Fusaric acid","Phenylalanine methyl ester","Dimethylaminopropyl Lauramide","2,8-Dihydroxyquinoline","Phenylalanylserine","FMN","Unknown (carbon number 7)","12,13-Dhome","gamma-Glutamylphenylalanine","Lidocaine","Kainic acid","2-Cyclopenten-1-one","Pantothenic acid","1-Stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine","Xanthurenic acid","Prostaglandin F28a","Bicifadine","beta-Ureidoisobutyric acid","N-Acetylmethionine, DL-","Acetoacetic acid","Leucyl-Leucine","Glycylvaline","Indole-3-acetyl-alanine","Polyornithine","4-Methylphthalic anhydride","Spectral Match to Leu-Thr from NIST14","Pyridine","4-Hydroxyquinoline","Spectral Match to Eicosapentaenoyl PAF C-16 from NIST14","1-Stearoyl-2-linoleoylphosphatidylcholine","O-Propanoyl-D-carnitine","N-acetyl-d-tryptophan","Spectral Match to Ser-Val from NIST14","(1r,3r)-1-Aminocyclopentane-1,3-dicarboxylic acid","N-Valyltryptophan","Serine","8,12-Octadecadienoic acid","4-Methylbenzaldehyde","Glutathione (oxidized)","Leucyl-alanine","Isocitric acid","Dibutylamine","N,N-Dimethyl-N-decylamine","Furanone A","Non-3-enoylcarnitine","LPC(18:1)","5-(2H-benzo[3,4-d]1,3-dioxolen-5-ylcarbonylamino)-2-(methylamino)-1,3-thiazole -4-carboxamide","Tridec-8-enoylcarnitine","5-Acetoxyindole","Prostaglandin B1","2-Hydroxypurine","Methylene-imidazole","1-Pentyl-3-(1-naphthoyl) indole","methyl 1-methylpiperidine-3-carboxylate","Spectral Match to Arachidonoylthio-PC from NIST14","3-(beta-D-Glucopyranosyloxy)-7-(alpha-L-rhamnopyranosyloxy)-5-hydroxy-4'-methoxyflavone","Stearic acid amide","Fructosyl-lysine","Dodecanamide","ethyl 2-[(ethoxycarbonyl)carbonylamino]benzoate","Pseudo-anisatin","Valylvaline","4,1-Benzoxazepine","4-Aminobutyraldehyde","6beta-Hydroxycortisol","Propionyl-L-carnitine","Sphingosine","Glyceryl monostearate","Malonylcarnitine","1-Lauroyl-2-Hydroxy-sn-Glycero-3-Phosphocholine","gamma-Glutamylleucine","gamma-Glutamylmethionine","1H-Pyrrole-2-carboxaldehyde","AgelasineE/F","L-IsoleucineL-Isoleucine","L,L-Cyclo(prolylalanyl)","L-Cystathionine","Lysine","Isoleucylserine","AICAR","Tyrosylleucine","2-Pyrrolecarboxylic acid","Guanine","17Alpha-hydroxy progesterone","4-[5-[[4-[5-[Acetyl(hydroxy)amino]pentylamino]-4-oxobutanoyl]-hydroxyamino]pentylamino]-4-oxobutanoic acid","Nepsilon,nepsilon,nepsilon-trimethyllysine","Dehydrocostus lactone","N-Acetylphenylalanine","Xanthosine","Perseitol","3,4-Diaminopyridine","Citric acid","Glycylleucine","Retinol","Isospaglumic acid","3-Formyl-6-hydroxyindole","(2E,4E)-Octadeca-2,4-dienoylcarnitine","N-Acetyl-L-arginine","Spectral Match to Ile-Gly-Ile from NIST14","3-Hydroxybenzyl alcohol","NAD+","Desogestrel","2,6,10,14-Hexadecatetraenoic acid, 3,7,11,15-tetramethyl-, (Z,E,E)-","Benzeneacetonitrile","(aS,5S)-Metolachlor","Leucyl-Glutamine","Spectral Match to Thr-Leu from NIST14","Indole-3-acrylic acid","C9H8O2","Phenylalanyltryptophan","3,4,5-Trimethylbenzaldehyde","2-Aminoethyl oleate","Glutathione (reduced)","2-(2-Aminopropanylamino)-4-carbamoylbutyric acid","5,5-Dimethyl-2(5H)-furanone","4-[(2,4-Dihydroxy-3,3-dimethylbutanoyl)amino]butanoic acid","6-Hydroxynicotinic acid","5-hydroxycalamenene","5-Hydroxymaltol","2-Pyrazinoylguanidine","Anandamide","Hydroquinone","Bisphenol A","Tryptophan methyl ester","Benzofuran","Spectral Match to 15-HEDE from NIST14","4-Hexanolide","1,2-Dihydroquinoline","Prostaglandin I3","dihydrocytochalasin B","3',4',5',5,7-Pentamethoxyflavone","15-Methylheptadecanoylcarnitine","Threonyltryptophan","Protoanemonin","1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine","3-Methylnonanedioylcarnitine","N-6-Isopent-2-enyl-adenosine","2-(4-Methyl-1,3-thiazol-5-yl)ethanol","4-Hydroxybenzyl alcohol","N-Acetylasparagine","Vinyl carbamate","Eicosanoids_12,13diHOME_C18H34O4","L-3-Aminodihydro-2(3H)-furanone","1-Methyladenosine","1-(2-Hydroxyethyl)-2,2,6,6-tetramethyl-4-hydroxypiperidine","Avenoleic acid","Sarcosine","Prolylvaline","Methyl arachidonate","Heptanoylcarnitine","7,8-Dihydro-D-biopterin","16-Hydroxypalmitic acid","Taurine","Zymosterol","2'-CMP","Arachidic acid","Spectral Match to Phe-Gln from NIST14","Pirbuterol","Spectral Match to Maltotetraose from NIST14","Epigallocatechol","Dexmethylphenidate","Pyridoxal","Trigonelline","beta-Methylcrotonylglycine","N-Acetyl-D-glucosamine","Catechol","1,10-Epoxygermacrone","Spectral Match to Ile-Glu-Lys from NIST14","Spectral Match to Val-Ile from NIST14","D-gamma-Glutamyl-D-glutamic acid","Dihydroceramide","Butenylcarnitine","1,2,3,4,Tetrahydro-1,5,7-trimethylnapthalene","4-Methylproline","2-(4-methoxyphenyl)propan-2-ol","(5Z,8R,9S,11R,13E,15S,19R)-9,11,15,19-Tetrahydroxy-5,13-prostadienoic acid","gamma-Guanidinobutyric acid","4-Ethylaniline","(2-{[(2R)-2-hydroxy-3-(pentadecanoyloxy)propyl phosphonato]oxy}ethyl)trimethylazanium","7-Methylnonanoylcarnitine","4-Hydroxymethylpyrazole","N-Hydroxy-1-aminonaphthalene","4,6-Cholestadien-3-one","Rishitinol","Nonactinic acid","Glycocyamine","Phenylalanine","Piperonyl butoxide","2-(2-amino-3-methylpentanamido)-3-carbamoylpropanoic acid","Tamoxifen","Cholesterol","Cholestenone","L-beta-Homoleucine","Gentiatibetine","Pro-leu","Morpholine","Moluccanin","Parthenolide","6,7-dimethoxyisoquinolyl 4,5-dimethoxy-2-nitrophenyl ketone","3-Methoxy-4-hydroxyphenylethanol","3-Hydroxy-2H-pyran-2-one","Spectral Match to Lys-Leu from NIST14","Myosmine","Uracil","Vidarabine","2,6-Di-tert-butyl-4-hydroxymethylphenol","3-Methylbenzaldehyde","(3S,8aS)-3-Isobutylhexahydropyrrolo[1,2-a]pyrazine-1,4-dione","beta-D-Glucopyranoside, 2-(hydroxymethyl)phenyl","Creatine","4-Oxo-L-proline","Sphingosine 1-phosphate","2-Hydroxyphenylethanol","Octopine","Spectral Match to Valerylcarnitine from NIST14","Fenpropimorph-carboxy","beta-Maltose","hydroxydeoxyguanosine","Methyl galactoside","2-Aminobicyclo[3.1.0]hexane-2,6-dicarboxylic acid","Phenylalanyl-Alanine","2-(2-amino-3-phenylpropanamido)-3-methylbutanoic acid","2-Ethyl-3-hydroxy-2,4,4-trimethyloxazolidine","Guanidinosuccinic acid","Maltoxazine","Simazine","3-(2-Hydroxy-3-methoxyphenyl)-2-propenoic acid","Acadesine","GABA","Hept-4-enoylcarnitine","Adrenic acid","(8Z,11Z,13E,15S)-15-hydroxyicosa-8,11,13-trienoic acid","Benzothiazolone","Desmosterol","3h-Taurine","Threoninyl-gamma-glutamate","1,3,5-Hexatriene","cis-Dihydrocarvone","Spectral Match to Ser-Leu from NIST14","Glycylmethionine","2-Hydroxy-4-imino-2,5-cyclohexadienone","2,3-Dihydro-1H-pyrrolizine-5-carboxaldehyde","Thunberginol A","Pyrrolidine-2-carboxamide","Deoxycarnitine","(5Z,8Z,11Z)-13-{3-[(2Z)-pent-2-en-1-yl]oxiran-2-yl}trideca-5,8,11-trienoic acid","3beta,6beta-Dihydroxynortropane","3-Octadec-9-enoyloxy-4-(trimethylazaniumyl)butanoate","(9E,12E)-N-(2-Hydroxyethyl)octadeca-9,12-dienamide","3-Aminobenzamide","trans-Hexadec-2-enoyl carnitine","3-(Hydroxymethyl)furan-2-carbaldehyde","4',6-Dihydroxyflavone","C9H14N","1,2-Dimethylimidazole","Threonine, DL-","Dihydro-5-methyl-2(3H)-furanone","Dimethylethanolamine","3-(Octyloxy)propanamine","(1S,2R,4aR,8aR)-1-Acetoxy-7-isopropylidene-1,4a-dimethyl-6-oxodecahydro-2-naphthalenyl 2,3-dimethyl-2-oxiranecarboxylate","Histidine","cis-5-Tetradecenoylcarnitine","7Z,10Z-Hexadecadienoic acid","Tropic acid","4-Hydroxy-2H-pyran-3-carboxaldehyde","Glutamic acid gamma-methyl ester","Phosphoric acid","(9E)-Heptadec-9-enoylcarnitine","12-Hydroxydodecanoic acid","Pyridin-2-ol","3, 5-Tetradecadiencarnitine","N-Phenylacetylglutamic acid","2-Hydroxylauroylcarnitine","Cysteinylglycine","Tyrosine methyl ester","Diethyl phthalate","Glyceryl monopalmitate","Ergothioneine","Undec-3-enoylcarnitine","Medrysone","(2'E,4'Z,8E)-Colneleic acid","Quinoline-4-carboxylic acid","(4Z,7Z,10Z,13Z,16Z)-18-(3-ethyloxiran-2-yl)octadeca-4,7,10,13,16-pentaenoic acid","Histidiylleucine","1-Dodecyl-2-pyrrolidinone","Kynurenine","2-(2-aminopropanamido)-4-methylpentanoic acid","8-hydroxy-5Z,9E,11Z,14Z-eicosatetraenoic acid","N-Acetylhistidine","6-Bromoquinolin-2(1H)-one","3-(2-(2H,3H-benzo[3,4-e]1,4-dioxin-6-yl)-2-oxoethyl)-3-hydroquinazolin-4-one","3-Pyridinecarboxaldehyde","Tryptophan","Xanthine","Polyalanine","Choline","Dodeca-2,4,6-trienoylcarnitine","Trp-Pro","2-Hexenoylcarnitine","2-Hydroxyacetamide","N-Butylbenzenesulfonamide","Capryloyl glycine","1H-Imidazole-4-propanol, beta-amino-, (S)-","9,11-Octadecadienoic acid, 13-oxo-, (E,Z)-","L-Isoleucine","6-Oxopiperidine-2-carboxylic acid","Vitispirane","S-lactoyl-glutathione","Trimethyl glycine","2-Aminopurine","(6E,9E,12E)-Hexadeca-6,9,12-trienoylcarnitine","3-(Tetradecanoylamino)propyl(carboxymethyl)dimethylammonium","Palmitoylcarnitine","Phosphorylcholine","IMP","S-Adenosylhomocysteine","Transtorine","2,2,6,6-Tetramethylpiperidin-1-ol","D-Lysine","Fasoracetam","Dimethyl sulfoxide","L-Aspartic acid","Spectral Match to .alpha.-L-Glu-L-Tyr from NIST14","Unknown (carbon number 9)","9-Octadecenamide","Uridine monophosphate","Echimidine N-oxide","Phthalic anhydride","3-Hydroxybutyrylcarnitine","(R)-alpha-Methylhistamine","1-Palmitoyl-sn-glycero-3-phosphocholine","Ethoxyquin","N-acetylglucosamine","(2-aminoethoxy)[(2R)-2-hydroxy-3-[(9Z)-octadec-9-enoyloxy]propoxy]phosphinic acid","Acetyl glutamic acid","racemic-Propranolol","2-Acetyl-1,5,6,7-tetrahydro-6-hydroxy-7-(hydroxymethyl)-4H-azepine-4-one","Caffeoylcholine","Pyridoxal phosphate","Indole-3-carboxylic acid","3-Hydroxy-cis-5-tetradecenoylcarnitine","Phosphoric acid, diphenyl ester","4-oxo-Butanal","Glycyl-L-phenylalanine","alpha-Methyltryptamine","Riboflavin","N-Isovaleroylglycine","Alanylnorvaline","Palmidrol","1-(Aminocarbonyl)-L-proline","Trimethyloxamine","19-Hydroxydeoxycorticosterone","Semidehydroascorbic acid","N-Phenyl-1-naphthylamine","7-Oxodehydroepiandrosterone 3-acetate","Cholestan-3-one","m-Aminobenzoic acid","Biotin","GMP","Phenol","Spectral Match to Asp-Leu from NIST14","2-Furanmethanol","(2-{[(2R)-2-hydroxy-3-(tetradecanoyloxy)propyl phosphonato]oxy}ethyl)trimethylazanium","3-Azetidinecarboxylic acid","L-Acetylleucine","Dicyclohexylamine","Cinnamic acid","4-(2-Furanylmethylene)-3,4-dihydro-2H-pyrrole","Butyrylcarnitine","Spectral Match to 12(S)-Hydroxy-16-heptadecynoic acid from NIST14","Aspartyl adenylate","Spectral Match to Ser-Phe from NIST14","4'-Hydroxyflavanone","Spectral Match to Monopalmitolein (9c) from NIST14","cis-4-Carboxymethylenebut-2-en-4-olide","1-Piperidinecarboxaldehyde","(2E)-2-Propylpent-2-enoylcarnitine","Benzododecinium","3-Methylpentanoylcarnitine","N(6)-(N-Threonylcarbonyl)adenosine","Hydroxyindoleacetic acid","3-(2-Methylpropyl)pyridine","(7E)-5-Hydroxydodec-7-enoylcarnitine","Irigenin Trimethyl Ether","2-[2-amino-3-(4-hydroxyphenyl)propanamido]-3-phenylpropanoic acid","dihydrocorticosterone","Isoferulic acid","4',5,6,7-Tetramethoxyflavone","9-Decenoylcarnitine","Octadeca-9,12-dienal","3-Hydroxyisovalerylcarnitine","2-(2-amino-3-carbamoylpropanamido)-3-phenylpropanoic acid","Tiglylcarnitine","Tridecanoylcarnitine","Aspartyl-phenylalanine","3-Hydroxyhexadecanoylcarnitine","Thiamine ion","3-oxo-Butanal","Guanosine","Spectral Match to 8S-Hydroxy-9E,11Z,14Z-eicosatrienoic acid from NIST14","Pregn-4-en-18-al, 11,21-dihydroxy-3,20-dioxo-, (11.beta.)-","1-acyl-PAF","gamma-Glutamylisoleucine","beta-D-Glucosamine","Methyl DL-methionate","5-Butyl-2-methylpyridine","Isoindolin-1-one","25-Hydroxycholesterol","2-Pyrrolidone","1,2-Dipalmitoleoyl-sn-glycero-3-phosphocholine","Tris(1,3-dichloro-2-propyl)phosphate","Spectral Match to Leu-Ile from NIST14","Alanylphenylalanine","2,6 Dimethylheptanoyl carnitine","(2E,6E,8E)-Decatrienoylcarnitine","Bullatine G","4-methylquinoline-2-carboxylic acid","Uridine","4-Amino-2-methylenebutanoic acid","Acetyl proline","1-Carboxyethylphenylalanine","6,10,14-Trimethyl-5,9,13-pentadecatrien-2-one","2,2,7,7-Tetramethyl-1,6-dioxaspiro[4.4]nona-3,8-diene","Nicotinamide mononucleotide","Unknown (carbon number 11)","3-acetyl-5-(butan-2-yl)-4-hydroxy-2,5-dihydro-1H-pyrrol-2-one","3-hydroxydecanoyl carnitine","Equol","(1s,4r)-7,7-dimethyl-2-oxobicyclo[2.2.1]heptane-1-carboxylic acid","Proline","3-Methyl-4-phenyl-3-buten-2-one","Tetrahydropyridine","Macrosphelide D","8-Dodecenoylcarnitine","Isoindoline","Spectral Match to Ile-Leu from NIST14","N6-Succinyladenosine","5,7-Dihydroxy-4-methylcoumarin","Capric dimethyl amine oxide","Indole-3-acetic acid","Tinnevellin glucoside","Isovalerylglutamic acid","Tetradecyldiethanolamine","6,15-Diketo-13,14-dihydroprostaglandin F1alpha","Fumaric acid","Acetylcarnitine","Uric Acid","Argininosuccinic acid","2-Methylthio-N6-(delta2-isopentenyl)adenosine","Hypotaurine","(2R)-6-methylpiperidine-2-carboxylic acid","Sucrose","Phenylalanylphenylalanine","Viridicatin","gamma-Glutamyltyrosine","Isoguanosine","LPC(22:6)","Glycylproline","Mmv688888","Spermidine","Taurocholic acid","Spectral Match to Tyr-Val from NIST14","Propionylcarnitine","Dioctyl phthalate","Octa-2,6-dienoylcarnitine","20-Hydroxy-5,8,11,14-eicosatetraenoic acid","3-(Dodecanoylamino)propyl(carboxymethyl)dimethylammonium","5-Hydroxy-4-oxo-L-norvaline","2H-benzo[d]1,3-dioxolan-5-yl-N-(4,5-dimethyl(1,3-thiazol-2-yl))carboxamide","Acetone cyanohydrin","Glutamic acid","Psicose","Suberic acid","Hydroxyproline","1H-Imidazole-4-carboxamide","4-Hexylaniline","2-(5-methyl-1,3-dioxobenzo[c]azolin-2-yl)acetic acid","5'-Methylthioadenosine","Hydroxyacetone","delta-Valerobetaine","Formamide, N-[(1Z)-2-(4-methoxyphenyl)ethenyl]-","Creatinine","Dexpanthenol","3,4,5-trimethoxyphenyl 3,4,5-trimethylpyrazolyl ketone","Serylalanine","4-Vinylcyclohexene","Pyridoxic acid","Pyridoxine","1-O-Hexadecyl-sn-glycero-3-phosphocholine","Di-N-propylamine","7,8-Dimethylalloxazine","3-Hydroxyhexanoylcarnitine","N-acetylgalactosamine","N-L-Alanyl-L-valine","9-Tetradecenoic acid","Clupanodonic acid","Triethyl phosphate","3-Methylene-indolenine","Cortisol","Cycloserine","Propamocarb","Hydroxy Tyrosol -Acetate","methyl (7Z)-hexadec-7-enoate","Urobilin","Betaine","Pivaloylcarnitine","(2-aminoethoxy)[(2R)-3-(hexadecanoyloxy)-2-hydroxypropoxy]phosphinic acid","Metacetamol","Cyclopentanone","1-Aminocyclopropane-1-carboxylic acid","4-({4-[methyl(methylsulfonyl)amino]phenoxy}methyl)hydroquinolin-2-one","Cytidine","Taurursodiol","N-Acetyl-L-aspartic acid","(R)-2-Nitro-p-mentha-1,5-diene","3-Hydroxytetradeca-6,8,10-trienoylcarnitine","Bethanidine","Indole-3-lactic acid","5,6-Dihydroxy-2-methylaminotetralin","C17 Sphingosine","Norethindrone","Sphinganine","Glycerophosphoethanolamine","Mead acid","1-Pyrrolidinecarboxaldehyde","7-Ethoxycoumarin","1-Methyl-L-tryptophan","7-Ketolithocholic acid","m-Ethyl_toluene","1H-Indene-1,2(3H)-dione","(1S,2S,6R,7R,9R)-6-methyl-10,12-dioxatricyclo[7.2.1.0<2,7>]dodec-4-en-8-one","Indole-3-carbaldehyde","Progesterone","3-Ethylpyridine","Ricinoleic acid, methyl ester","6-oxo-Butanal","Isohexadecanoic acid","Cyclopenta[c]pyran-4-carboxylic acid, 1-(beta-D-glucopyranosyloxy)-1,4a,5,7a-tetrahydro-7-[[[(2E)-1-oxo-3-phenyl-2-propen-1-yl]oxy]methyl]-, (1S,4aS,7aS)-","Bistris","Spectral Match to O-Arachidonoylglycidol from NIST14","N-Caproylglycine","Kynurenic acid","beta-Alanine","Noradrenaline","Norleucine, (+/-)-","Prolylisoleucine","1,2-Benzoquinone","Phenylalanylleucine","Thiamine monophosphate","2-Acetylacteoside","Methionine","Muramic acid","Gibberellin A12","Sinapine","Isoleucyl-Arginine","Styrene Oxide","Niacin","Lauroylcarnitine","3-Ethylfuran","2-Methyl-2-phenoxypropanoic acid","PC(18:1(11Z)/18:2(9Z,12Z))","(+/-)-8-hydroxy-5Z,9E,11Z,14Z,17Z-eicosapentaenoic acid","Spectral Match to Met-Val from NIST14","1H-Purine","Tris(chloroethyl) phosphate","(5E,7E)-Dodeca-5,7-dienoylcarnitine","Spectral Match to Ile-Pro from NIST14","Carnosine","8-HETrE","Lauryldiethanolamine","3-Methoxytyramine","Palmitoyl glycerol","N-[1-(4-methoxy-6-oxopyran-2-yl)-2-methylpropyl]acetamide","Mmv688469","(1R,2R,4aS,8aS)-2-[(2R)-2-Hydroxybutyl]-1,3-dimethyl-1,2,4a,5,6,7,8,8a-octahydro-1-naphthalenecarboxylic acid","1,2-Dilinolenoyl-sn-glycero-3-phosphatidylcholine","N-Fructosyl pyroglutamate","Niacinamide","1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine","Serotonin","6-Keto-decanoylcarnitine","Kojic acid","2'-Deoxyguanosine 5'-phosphate","Phenylacetylglycine","2-(3-amino-6-iminoxanthen-9-yl)benzoic acid, chloride","Methyl sterculate","(2E)-Hexenedioylcarnitine","Spectral Match to Ile-Tyr from NIST14","1-Octadecanoyl-sn-glycero-3-phosphocholine","1,2,3,4-Tetrahydro-beta-carboline-3-carboxylic acid","Nadide","1-Piperideine-2-carboxylic acid","1-Phenyl-1-cyclohexene","6-Oxopurine","5-(4-carboxy-3-methylbutyl)-5,6,8a-trimethyl-3-oxo-4a,6,7,8-tetrahydro-4H-naphthalene-1-carboxylic acid","Spectral Match to Leu-Glu from NIST14","Erythrocentaurin","Threonylleucine","Phytosphingosine","Isoleucylhydroxyproline","Spectral Match to Glu-Phe from NIST14","Spectral Match to 4(5)-EpDPE methyl ester from NIST14","Tyrosine","Gallic acid","15-Deoxy-delta12,14-prostaglandin J2","Glyceryl monooleate","5,8,11,14-Eicosatetraenoic acid, ethyl ester","5-Methylpyrazine-2-carboxylic Acid","Lauramine oxide","Imidazolone","4-Methylimidazole","Spermine","alpha-Eleostearic acid","4-carbamoyl-2-acetamidobutanoic acid","Hypoxanthine","9-acetyl-17-hydroxy-10,14-dimethyl-20-oxahexacyclo[11.9.0.0<2,10>.0<4,9>.0<14, 19>.0<19,21>]docosane","Hippuric acid","Linarin","Spectral Match to Val-Phe from NIST14","D-Pipecolic acid","4-Deoxypyridoxine","3-Amino-2,2-dimethylpropanoic acid","6,7-Dihydroxy-4-methylcoumarin","2-Ethylpropanedioylcarnitine","Spectral Match to .alpha.-L-Asp-L-Phe from NIST14","Negletein","Ophthalmic acid","N-Acetyl-beta-neuraminic acid","4-Methylheptanoylcarnitine","Adenine","FAD","8-Methyltridecanoylcarnitine","Nicotinuric acid","Timonacic","Inosine","Spectral Match to Arachidonoyl amide from NIST14","Leu-leu-ome","6-Hydroxy-3,4-dihydro-2(1H)-quinolinone","Carbapenem","Unknown (carbon number 16)","Metolachlor-Morpholinone","Diprotin A","Cholic acid","m-Toluamide","Arachidonic acid","Pregnenolone","Arachidonoyl-carnitine","3-Hydroxy-5,8-tetradecadienoylcarnitine","Ellagic acid","Anserine","3-Methylhistidine","Caffeine","4-Hydroxybenzoylcholine","1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine","PC(16:0/22:5(4Z,7Z,10Z,13Z,16Z))","Chebi","Glyceryl monolinoleate","gamma-Glutamylcysteine","L-Methionine","Dihydrouracil","3-Hydroxy-4-oxo-4H-pyran-2-carboxylic acid","8-Methylquinoline","alpha-Methylene butyrolactone","Pro-val","Dimethyl phthalate","Tri(2-butoxyethyl) phosphate","Glyceryl monomyristate","Mannitol","sn-Glycero-3-phosphocholine","Glucose 1-phosphate","Tri-(2-chloroisopropyl)phosphate","(15Z)-tetracos-15-enoylcarnitine","Octanoic acid, 2-amino-","Polyglutamine","Succinylcarnitine","Dodecanedioic acid","(7R)-7-[(Dodeca-4,7,10-trienoyl)oxy]-4-hydroxy-N,N,N-trimethyl-4-oxo-3,5,9-trioxa-4lambda~5~-phosphapentacosan-1-aminium","(3E,5Z)-1,3,5-Heptatriene","Dimethyl myristamine","Indane","Tetradeca-5,7,9-trienoylcarnitine","N-Lauroylsarcosine","Dibutyl phthalate","4-(2-Aminophenyl)-2,4-dioxobutanoic acid","(1R,5R,6R,13R,14R,16S)-6-(3-Furyl)-16-(2-methoxy-2-oxoethyl)-1,5,15,15-tetramethyl-8,17-dioxo-7-oxatetracyclo[11.3.1.0~2,11~.0~5,10~]heptadec-10-en-14-yl 2-methylpropanoate","3-Methylglutarylcarnitine","Methylpyrazine","Methylmalonic acid","8-Oxo-7,8-dihydrodeoxyguanine","2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol","Spectral Match to 13(S)-HODE methyl ester from NIST14","Malic acid","Spectral Match to Trp-Glu from NIST14","1-Carboxyethyltyrosine","3-ethyl-4-hydroxy-1-benzylhydroquinolin-2-one","Oxolinic acid","Indole-3-acetaldehyde","Vitamin K1","Erucamide","Dimethyl-3-hydroxypyrid-4-one","Bufalin","3-Aminopicolinaldehyde","Oxypurinol","2-Benzimidazolecarbamic acid","Coronaric acid","Traversianal","Denudatine","3-hydroxyoctanoyl carnitine","(8S,9S,10R,11S,13S,14S,17S)-11,17-dihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-2,6,7,8,9,11,12,14,15,16-decahydro-1H-cyclopenta[a]phenanthren-3-one","3-(Indol-3-yl)propionic acid","6,11-dioxododecanoic acid","Methionine sulfoxide","Normetanephrine","6,8-Dihydroxypurine","1,3-Dicyclohexylurea","Hexadecanamide","trimethyl(2-{[(2R)-3-[(9Z)-octadec-9-enoyloxy]-2-(tetradecanoyloxy)propyl phosphonato]oxy}ethyl)azanium","Gly-Tyr","Threonylphenylalanine","p-Hydroxybenzaldehyde","Azelaic acid","2-(2-amino-3-methylpentanamido)-3-hydroxybutanoic acid","Spectral Match to Leu-Trp from NIST14","Spectral Match to 3-Hydroxyoctadecanoic Acid from NIST14","Triphenyl phosphate","Imidazolepropionic acid","Epinephrine","2-(Methylsulfonyl)pyridine","2-Methyl-1,4-benzoquinone","4,5-Dimethyloxazole","SM(d18:0/18:1(11Z))","5?-CHOLANIC ACID-3?-OL-6_7-DIONE","Spectral Match to Ile-Met from NIST14","2-trans,4-cis-Decadienoylcarnitine","(1S,5R,9S,13R)-14-formyl-5,9-dimethyltetracyclo[11.2.1.0,?.0?,?]hexadec-14-ene-5-carboxylic acid","N,N-Dimethyl-1-tetradecanamine-N-oxide","Daidzein","SM(d18:2(4E,14Z)/16:0)","3-Hydroxyadipic acid 3,6-lactone","N-epsilon-Acetyllysine","(2-{[(2R)-3-(heptadecanoyloxy)-2-hydroxypropyl phosphonato]oxy}ethyl)trimethylazanium"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Ablation of Sfxn5 Induces Mitochondrial Dysfunction and Precipitates Lethal Metabolic Crisis in Mice","description":"Mitochondrial disorders frequently manifest with life-threatening hepatic metabolic crises. Using a global Sfxn5-knockout mouse model, we investigated the systemic consequences of disrupting this mitochondrial inner-membrane transporter through integrated biochemical, metabolomic, histological, and ultrastructural analyses. Sfxn5 deficiency resulted in complete postnatal lethality accompanied by severe metabolic collapse and progressive multi-organ dysfunction. The liver emerged as the primary site of pathology, exhibiting marked mitochondrial structural damage and widespread disruption of central metabolic pathways, including the tricarboxylic acid cycle, fatty acid β-oxidation, and ammonia detoxification, leading to hyperammonemia and systemic metabolic stress. Importantly, liver-specific reconstitution of Sfxn5 partially restored mitochondrial metabolic function, substantially reduced hyperammonemia, and alleviated multi-organ pathology. Altogether, these findings identify hepatic mitochondrial dysfunction as the central driver of Sfxn5-dependent lethality and establish a critical role for Sfxn5 in maintaining mitochondrial metabolic homeostasis during early postnatal life.","dates":{"publication":"2026-05-30","submission":"2026-05-30"},"accession":"MTBLS14628","cross_references":{"HMDB":["HMDB0010728","HMDB0000156","HMDB0000177","HMDB0000267","HMDB0240597","HMDB0001172","HMDB0011753","HMDB0006372","HMDB0061697","HMDB0033624","HMDB0000498","HMDB0000426","HMDB0062739","HMDB0000442","HMDB0000254","HMDB0059708","HMDB0000745","HMDB0028928","HMDB0013609","HMDB0006556","HMDB0000296","HMDB0000671","HMDB0061682","HMDB0244966","HMDB0062181","HMDB0062178","HMDB0250782","HMDB0000539","HMDB0000158","HMDB0031193","HMDB0000812","HMDB0240316","HMDB0000187","HMDB0000402","HMDB0000448","HMDB0062177","HMDB0061695","HMDB0000044","HMDB0245900","HMDB0039533","HMDB0032918","HMDB0245025","HMDB0010325","HMDB0011757","HMDB0245134","HMDB0000641","HMDB0006833","HMDB0000094","HMDB0028914","HMDB0059660","HMDB0000349","HMDB0061650","HMDB0059758","HMDB0240687","HMDB0028927","HMDB0000127","HMDB0249495","HMDB0000089","HMDB0000126","HMDB0242034","HMDB0041287","HMDB0000779","HMDB0034054","HMDB0000943","HMDB0000682","HMDB0094660","HMDB0032994","HMDB0031232","HMDB0000176","HMDB0000167","HMDB0028686","HMDB0013678","HMDB0011719","HMDB0062642","HMDB0094804","HMDB0000159","HMDB0000289","HMDB0000872","HMDB0000213","HMDB0000701","HMDB0240365","HMDB0041929","HMDB0013286","HMDB0000759","HMDB0013233","HMDB0040646","HMDB0062585","HMDB0032523","HMDB0000033","HMDB0000623","HMDB0000792","HMDB0011686","HMDB0028690","HMDB0246823","HMDB0000125","HMDB0000017","HMDB0030994","HMDB0034299","HMDB0062183","HMDB0246290","HMDB0010165","HMDB0001429","HMDB0000888","HMDB0061684","HMDB0000424","HMDB0000901","HMDB0000251","HMDB0059757","HMDB0000181","HMDB0240628","HMDB0000959","HMDB0255052","HMDB0000565","HMDB0014118","HMDB0029108","HMDB0000706","HMDB0001067","HMDB0062176","HMDB0000678","HMDB0246116","HMDB0013248","HMDB0000195","HMDB0030990","HMDB0000968","HMDB0012535","HMDB0059594","HMDB0000133","HMDB0003040","HMDB0003540","HMDB0028932","HMDB0005765","HMDB0247860","HMDB0001271","HMDB0001043","HMDB0000292","HMDB0061117","HMDB0000112","HMDB0011741","HMDB0003033","HMDB0000808","HMDB0000224","HMDB0001397","HMDB0000784","HMDB0001121","HMDB0012502","HMDB0028853","HMDB0035878","HMDB0000714","HMDB0035408","HMDB0036998","HMDB0000157","HMDB0000763","HMDB0000665","HMDB0001416","HMDB0001517","HMDB0000462","HMDB0246781","HMDB0000072","HMDB0000767","HMDB0037398","HMDB0059779","HMDB0094722","HMDB0004710","HMDB0302552","HMDB0001266","HMDB0060101","HMDB0245697","HMDB0002203","HMDB0001068","HMDB0000510","HMDB0059712","HMDB0002183","HMDB0240312","HMDB0000056","HMDB0028995","HMDB0010736","HMDB0000230","HMDB0000726","HMDB0061676","HMDB0000625","HMDB0000807","HMDB0000134","HMDB0011670","HMDB0013010","HMDB0094728","HMDB0040329","HMDB0013773","HMDB0029796","HMDB0000881","HMDB0040531","HMDB0000379","HMDB0001483","HMDB0061656","HMDB0304904","HMDB0061658","HMDB0062676","HMDB0032612","HMDB0001016","HMDB0001491","HMDB0060015","HMDB0000407","HMDB0246643","HMDB0028801","HMDB0028828","HMDB0000095","HMDB0060014","HMDB0000832","HMDB0062412","HMDB0004693","HMDB0000781","HMDB0028830","HMDB0125163","HMDB0031507","HMDB0030985","HMDB0012710","HMDB0249518","HMDB0000806","HMDB0010208","HMDB0000472","HMDB0033900","HMDB0000394","HMDB0000115","HMDB0094710","HMDB0240311","HMDB0000669","HMDB0245084","HMDB0000273","HMDB0033127","HMDB0000299","HMDB0013312","HMDB0004708","HMDB0062363","HMDB0002466","HMDB0036309","HMDB0011111","HMDB0001895","HMDB0059915","HMDB0035291","HMDB0034074","HMDB0011602","HMDB0011649","HMDB0039441","HMDB0000350","HMDB0006088","HMDB0255053","HMDB0061946","HMDB0011171","HMDB0030984","HMDB0032324","HMDB0031057","HMDB0000064","HMDB0112184","HMDB0061114","HMDB0251562","HMDB0001548","HMDB0000562","HMDB0302107","HMDB0244833","HMDB0010730","HMDB0304442","HMDB0248109","HMDB0254201","HMDB0061156","HMDB0245098","HMDB0033812","HMDB0061645","HMDB0247909","HMDB0010737","HMDB0001264","HMDB0240253","HMDB0062238","HMDB0251527","HMDB0041618","HMDB0062549","HMDB0002074","HMDB0002264","HMDB0240452","HMDB0247706","HMDB0031031","HMDB0002261","HMDB0001316","HMDB0039974","HMDB0039716","HMDB0062365","HMDB0244353","HMDB0000821","HMDB0000226","HMDB0002776","HMDB0038966","HMDB0000300","HMDB0037831","HMDB0030987","HMDB0028700","HMDB0001151","HMDB0029838","HMDB0033895","HMDB0002381","HMDB0001352","HMDB0253138","HMDB0240605","HMDB0040900","HMDB0000609","HMDB0062557","HMDB0035325","HMDB0033153","HMDB0094756","HMDB0252697","HMDB0246833","HMDB0001321","HMDB0030323","HMDB0029083","HMDB0242256","HMDB0030719","HMDB0000491","HMDB0012567","HMDB0000532","HMDB0029103","HMDB0036384","HMDB0004982","HMDB0000715","HMDB0028900","HMDB0013279","HMDB0112069","HMDB0240731","HMDB0033780","HMDB0000517","HMDB0036817","HMDB0062534","HMDB0247525","HMDB0252324","HMDB0242143","HMDB0005808","HMDB0242599","HMDB0247281","HMDB0000661","HMDB0243899","HMDB0010733","HMDB0028791","HMDB0035302","HMDB0006888","HMDB0000132","HMDB0250266","HMDB0125166","HMDB0029797","HMDB0037565","HMDB0028924","HMDB0015014","HMDB0006756","HMDB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