Holmstroem 2014 Abstract MiP2014: Difference between revisions
No edit summary |
No edit summary |
||
Line 7: | Line 7: | ||
}} | }} | ||
{{Labeling | {{Labeling | ||
|additional=MiP2014 | |area=Respiration, mtDNA;mt-genetics, Patients | ||
|organism=Human | |||
|tissues=Skeletal muscle | |||
|model cell lines=Fibroblast | |||
|preparations=Isolated Mitochondria | |||
|enzymes=Complex I, Complex II; Succinate Dehydrogenase, Complex IV; Cytochrome c Oxidase | |||
|topics=O2 | |||
|additional=MiP2014: RCE | |||
}} | }} | ||
== Affiliation == | == Affiliation == | ||
1-Dep Clinical Chem Transfusion Medicine, Sahlgrenska Univ Hospital; 2-Dep Medical Biochem Cell Biol; Gothenburg Univ, Sweden. - [email protected] | 1-Dep Clinical Chem Transfusion Medicine, Sahlgrenska Univ Hospital; 2-Dep Medical Biochem Cell Biol; Gothenburg Univ, Sweden. - [email protected] |
Revision as of 11:26, 23 July 2014
Homozygous missense mutation in the human NARS2 gene results in reduced homodimerization of mitochondrial AsnRS enzyme in a patient with Alpers syndrome. |
Link:
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]