Search

Your search keyword '"Nedregaard B"' showing total 5 results
Start Over Author "Nedregaard B" Database OAIster
5 results on '"Nedregaard B"'

1. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Author

Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., Misceo, D., Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., and Misceo, D.

Abstract

Item does not contain fulltext

Published
2016

2. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Author

Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., Misceo, D., Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., and Misceo, D.

Abstract

Item does not contain fulltext

Published
2016

3. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Author

Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., Misceo, D., Barøy, T., Pedurupillay, C.R., Bliksrud, Y.T., Rasmussen, M., Holmgren, A., Vigeland, M.D., Hughes, T., Brink, M, Rodenburg, R.J.T., Nedregaard, B., Strømme, P., Frengen, E., and Misceo, D.

Abstract

Item does not contain fulltext

Published
2016

4. Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Author

Hoefs, S.J.G., Skjeldal, O.H., Rodenburg, R.J.T., Nedregaard, B., Kaauwen, E. van, Spiekerkotter, U., Kleist-Retzow, J.C. von, Smeitink, J.A.M., Nijtmans, L.G.J., Heuvel, L.P.W.J. van den, Hoefs, S.J.G., Skjeldal, O.H., Rodenburg, R.J.T., Nedregaard, B., Kaauwen, E. van, Spiekerkotter, U., Kleist-Retzow, J.C. von, Smeitink, J.A.M., Nijtmans, L.G.J., and Heuvel, L.P.W.J. van den

Abstract

1 juli 2010, Contains fulltext : 87205.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency is the most frequently encountered defect of the oxidative phosphorylation system. To identify the genetic cause of the complex I deficiency, we screened the gene encoding the NDUFS1 subunit. We report 3 patients with low residual complex I activity expressed in cultured fibroblasts, which displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop codon, 3 mutations cause a substitution of amino acids and another mutation a deletion of one amino acid. The fibroblasts of the patients display a decreased amount and activity of complex I. In addition, a disturbed assembly pattern was observed. These results suggest that NDUFS1 is a prime candidate to screen for disease-causing mutations in patients with a very low residual complex I activity in cultured fibroblasts.

Published
2010

5. Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Author

Hoefs, S.J.G., Skjeldal, O.H., Rodenburg, R.J.T., Nedregaard, B., Kaauwen, E. van, Spiekerkotter, U., Kleist-Retzow, J.C. von, Smeitink, J.A.M., Nijtmans, L.G.J., Heuvel, L.P.W.J. van den, Hoefs, S.J.G., Skjeldal, O.H., Rodenburg, R.J.T., Nedregaard, B., Kaauwen, E. van, Spiekerkotter, U., Kleist-Retzow, J.C. von, Smeitink, J.A.M., Nijtmans, L.G.J., and Heuvel, L.P.W.J. van den

Abstract

01 juli 2010, Contains fulltext : 87205.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency is the most frequently encountered defect of the oxidative phosphorylation system. To identify the genetic cause of the complex I deficiency, we screened the gene encoding the NDUFS1 subunit. We report 3 patients with low residual complex I activity expressed in cultured fibroblasts, which displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop codon, 3 mutations cause a substitution of amino acids and another mutation a deletion of one amino acid. The fibroblasts of the patients display a decreased amount and activity of complex I. In addition, a disturbed assembly pattern was observed. These results suggest that NDUFS1 is a prime candidate to screen for disease-causing mutations in patients with a very low residual complex I activity in cultured fibroblasts.

Published
2010

Catalog

Books, media, physical & digital resources
See catalog results