New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency

Autor: Dionisi-Vici, C., Ruitenbeek, W., Fariello, G., Bentlage, H., Wanders, R. J., Schägger, H., Bosman, C., Piantadosi, C., Sabetta, G., Bertini, E.

Publikováno v: Annals of Neurology, 42, 4, pp. 661-665
Annals of Neurology, 42, 661-665
Annals of Neurology, 42, pp. 661-665
Annals of neurology, 42(4), 661-665. John Wiley and Sons Inc.

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::461856d668e0a739121ccd7660162cb7
https://doi.org/10.1002/ana.410420419

Structural Insights into the A1 ATPase from the archaeon, Methanosarcina mazei Gö1

Autor: Gerhard Grüber, Koch Mh, Ünal Coskun, Müller, Thorsten Lemker, Schägger H, Dmitri I. Svergun

Publikováno v: Biochemistry. 40(7)

The low-resolution structure and overall dimensions of the A(3)B(3)CDF complex of the A(1) ATPase from Methanosarcina mazei Go1 in solution is analyzed by synchrotron X-ray small-angle scattering. The radius of gyration and the maximum size of the co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f8c823135348757839bd738c32d5ae7
https://pubmed.ncbi.nlm.nih.gov/11329254

Kinetic properties and ligand binding of the eleven-subunit cytochrome c oxidase from Saccharomyces cerevisiae isloated with a novel large-scale purification method

Autor: Geier, B.M., Schägger, H., Ortwein, C., Link, T.A., Hagen, W.R., Brandt, U., van Jagow, G.

Publikováno v: European Journal of Biochemistry 227 (1995)
European Journal of Biochemistry, 227, 296-302

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cc33b5f69502e19eedbed830b2b809d0
https://research.wur.nl/en/publications/kinetic-properties-and-ligand-binding-of-the-eleven-subunit-cytoc

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.

Autor: De Coo, I. F. M., Renier, W. O., Ruitenbeek, W., Ter Laak, H. J., Bakker, M., Schägger, H., Van Oost, B. A., Smeets, H. J. M., De Coo, I F, Schägger, H, Smeets, H J

Publikováno v: Annals of Neurology; 1999, Vol. 45 Issue 1, p130-133, 4p

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