Holmstroem 2014 Abstract MiP2014

Homozygous missense mutation in the human NARS2 gene results in reduced homodimerization of mitochondrial AsnRS enzyme in a patient with Alpers syndrome.

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MiP2014, Book of Abstracts Open Access

Holmstroem MH, Cabrera-Rodriguez C, Gustafsson C, Asin Cayuela J (2014)

Event: MiP2014

Labels: MiParea: Respiration, mtDNA;mt-genetics, Patients 

Organism: Human  Tissue;cell: Skeletal muscle  Preparation: Isolated Mitochondria"Isolated Mitochondria" is not in the list (Intact organism, Intact organ, Permeabilized cells, Permeabilized tissue, Homogenate, Isolated mitochondria, SMP, Chloroplasts, Enzyme, Oxidase;biochemical oxidation, ...) of allowed values for the "Preparation" property.  Enzyme: Complex I, Complex II; Succinate Dehydrogenase"Complex II; Succinate Dehydrogenase" is not in the list (Adenine nucleotide translocase, Complex I, Complex II;succinate dehydrogenase, Complex III, Complex IV;cytochrome c oxidase, Complex V;ATP synthase, Inner mt-membrane transporter, Marker enzyme, Supercomplex, TCA cycle and matrix dehydrogenases, ...) of allowed values for the "Enzyme" property., Complex IV; Cytochrome c Oxidase"Complex IV; Cytochrome c Oxidase" is not in the list (Adenine nucleotide translocase, Complex I, Complex II;succinate dehydrogenase, Complex III, Complex IV;cytochrome c oxidase, Complex V;ATP synthase, Inner mt-membrane transporter, Marker enzyme, Supercomplex, TCA cycle and matrix dehydrogenases, ...) of allowed values for the "Enzyme" property.  Regulation: O2"O2" is not in the list (Aerobic glycolysis, ADP, ATP, ATP production, AMP, Calcium, Coupling efficiency;uncoupling, Cyt c, Flux control, Inhibitor, ...) of allowed values for the "Respiration and regulation" property. 

MiP2014: RCE 

Affiliation

1-Dep Clinical Chem Transfusion Medicine, Sahlgrenska Univ Hospital; 2-Dep Medical Biochem Cell Biol; Gothenburg Univ, Sweden. - [email protected]