Zobrazeno 1 - 6
of 6
pro vyhledávání: '"S. M. S. Budde"'
Autor:
J. M. F. Trijbels, S. M. S. Budde, R.H. Triepels, M. E. Rubio Gozalbo, Jan A.M. Smeitink, Frits A. Wijburg, R.J.P. Smeets, Peter G. Barth, Jan Loeffen, C. A. F. Buskens, L.P.W.J. van den Heuvel, Edwin C. M. Mariman
Publikováno v:
Annals of Neurology, 45, 787-790. John Wiley and Sons Inc.
Annals of neurology, 45(6), 787-790. John Wiley and Sons Inc.
Annals of neurology, 45(6), 787-790. John Wiley and Sons Inc.
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::776599de2e8a4d7f6ed0a470cbe46061
https://doi.org/10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co
https://doi.org/10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co
Autor:
Vittoria Petruzzella, S. M. S. Budde, Rosanna Tamborra, Lambert P. van den Heuvel, Jan A.M. Smeitink, R. Vergari, Salvatore Scacco, Sergio Papa, Damiano Panelli
Publikováno v:
Journal of Biological Chemistry, 278, 44161-7
Journal of Biological Chemistry, 278, 45, pp. 44161-7
Journal of Biological Chemistry, 278, 45, pp. 44161-7
Contains fulltext : 189077.pdf (Publisher’s version ) (Open Access) Presented is a study of the impact on the structure and function of human complex I of three different homozygous mutations in the NDUFS4 gene coding for the 18-kDa subunit of resp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea34ca08f045f7e4d06d83aadde11381
http://hdl.handle.net/2066/189077
http://hdl.handle.net/2066/189077
Autor:
S. M. S. Budde, Sergio Papa, C. Boelen, J. A. Mayr, D. Skladal, R.J.P. Smeets, Jan A.M. Smeitink, Vittoria Petruzzella, L.P.W.J. van den Heuvel
Publikováno v:
Journal of Inherited Metabolic Disease, 26, 813-5
Journal of Inherited Metabolic Disease, 26, 8, pp. 813-5
Journal of Inherited Metabolic Disease, 26, 8, pp. 813-5
Item does not contain fulltext A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b633ccc4f70734e10600207f4919343c
https://doi.org/10.1023/B:BOLI.0000010003.14113.af
https://doi.org/10.1023/B:BOLI.0000010003.14113.af
Publikováno v:
Mitochondrion. 2(1-2)
Complex I is the first and largest enzyme of the oxidative phosphorylation system. It consists of at least 43 subunits. Recent studies have shown that the NDUFS4 subunit of complex I contributes to the activation of the complex through cAMP dependent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459f546c27353bfc9109403ff6b83d1f
https://pubmed.ncbi.nlm.nih.gov/16120313
https://pubmed.ncbi.nlm.nih.gov/16120313
Autor:
Francesco Papa, Lambert P. van den Heuvel, R. Vergari, Salvatore Scacco, Sergio Papa, Jan A.M. Smeitink, S. M. S. Budde, Anna Maria Sardanelli
Publikováno v:
FEBS Letters, 489, 259--62
FEBS Letters, 489, 2-3, pp. 259--62
FEBS Letters, 489, 2-3, pp. 259--62
Item does not contain fulltext Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d13d02b4d2eb5d6058492a55c2ecdf
https://doi.org/10.1016/S0014-5793(00)02334-6
https://doi.org/10.1016/S0014-5793(00)02334-6
Autor:
S. M. S. Budde, C.A.F. Buskens, R. Van Coster, Martina Baethmann, L.P.W.J. van den Heuvel, Antoon J.M. Janssen, L. DeMeirleir, J. M. F. Trijbels, Jan A.M. Smeitink, R.J.P. Smeets, Thomas Voit
Publikováno v:
Biochemical and Biophysical Research Communications, 275, 63-68
Biochemical and Biophysical Research Communications, 275, pp. 63-68
Biochemical and Biophysical Research Communications, 275, pp. 63-68
Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency is relatively scarce. So far, only mtDNA and thymidine phosphorylase (TP) mutations have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd74401f51d57fc5465e5fa551548f47
http://hdl.handle.net/2066/140675
http://hdl.handle.net/2066/140675