Database of articles cited by EMDB/PDB/SASBDB data

Keywords
Structure methods	All X-ray diffraction NMR electron microscopy small angle scattering neutron diffraction fiber diffraction powder diffraction infrared spectroscopy EPR fluorescence transfer theoretical model Hybrid
Author
Journal
IF	>30 >20 >10 >5 all

Title	Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4 mouse.
Journal, issue, pages	EMBO J, Vol. 43, Issue 2, Page 225-249, Year 2024
Publish date	Jan 2, 2024
Authors	Zhan Yin / Ahmed-Noor A Agip / Hannah R Bridges / Judy Hirst /
PubMed Abstract	Respiratory complex I (NADH:ubiquinone oxidoreductase) is essential for cellular energy production and NAD homeostasis. Complex I mutations cause neuromuscular, mitochondrial diseases, such as Leigh ...Respiratory complex I (NADH:ubiquinone oxidoreductase) is essential for cellular energy production and NAD homeostasis. Complex I mutations cause neuromuscular, mitochondrial diseases, such as Leigh Syndrome, but their molecular-level consequences remain poorly understood. Here, we use a popular complex I-linked mitochondrial disease model, the ndufs4 mouse, to define the structural, biochemical, and functional consequences of the absence of subunit NDUFS4. Cryo-EM analyses of the complex I from ndufs4 mouse hearts revealed a loose association of the NADH-dehydrogenase module, and discrete classes containing either assembly factor NDUFAF2 or subunit NDUFS6. Subunit NDUFA12, which replaces its paralogue NDUFAF2 in mature complex I, is absent from all classes, compounding the deletion of NDUFS4 and preventing maturation of an NDUFS4-free enzyme. We propose that NDUFAF2 recruits the NADH-dehydrogenase module during assembly of the complex. Taken together, the findings provide new molecular-level understanding of the ndufs4 mouse model and complex I-linked mitochondrial disease.
External links	EMBO J / PubMed:38177503 / PubMed Central
Methods	EM (single particle)
Resolution	3.2 - 6.2 Å
Structure data	16398 8c2s EMDB-16398, PDB-8c2s: Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 1). Method: EM (single particle) / Resolution: 3.9 Å EMDB-16514: Cryo-EM structure of NDUFS4 knockout of respiratory complex I from Mus musculus kidney. Method: EM (single particle) / Resolution: 6.2 Å 16515 8ca1 EMDB-16515, PDB-8ca1: Cryo-EM structure of the ACADVL dimer from Mus musculus. Method: EM (single particle) / Resolution: 4.3 Å 16516 8ca3 EMDB-16516, PDB-8ca3: Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 2). Method: EM (single particle) / Resolution: 3.2 Å 16517 8ca4 EMDB-16517, PDB-8ca4: Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 2 N-domain). Method: EM (single particle) / Resolution: 3.25 Å 16518 8ca5 EMDB-16518, PDB-8ca5: Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 3). Method: EM (single particle) / Resolution: 3.9 Å
Chemicals	ChemComp-SF4: IRON/SULFUR CLUSTER ChemComp-PC1: 1,2-DIACYL-SN-GLYCERO-3-PHOSPHOCHOLINE / phospholipidYM ChemComp-FES: FE2/S2 (INORGANIC) CLUSTER ChemComp-FMN: FLAVIN MONONUCLEOTIDE ChemComp-3PE: 1,2-Distearoyl-sn-glycerophosphoethanolamine / phospholipidYM ChemComp-CDL: CARDIOLIPIN / phospholipidYM ChemComp-LMT: DODECYL-BETA-D-MALTOSIDE / detergentYM ChemComp-GTP: GUANOSINE-5'-TRIPHOSPHATE / GTP, energy-carrying moleculeYM ChemComp-NAP: NADP NICOTINAMIDE-ADENINE-DINUCLEOTIDE PHOSPHATE ChemComp-ZN: Unknown entry ChemComp-EHZ: ~{S}-[2-[3-[[(2~{R})-3,3-dimethyl-2-oxidanyl-4-phosphonooxy-butanoyl]amino]propanoylamino]ethyl] (3~{S})-3-oxidanyltetradecanethioate ChemComp-FAD: FLAVIN-ADENINE DINUCLEOTIDE / FADYM ChemComp-UQ9: Ubiquinone-9 ChemComp-NDP: NADPH DIHYDRO-NICOTINAMIDE-ADENINE-DINUCLEOTIDE PHOSPHATE
Source	mus musculus (house mouse)
Keywords	OXIDOREDUCTASE / NADH ubiquinone oxidoreductase / Complex I