Výsledky vyhledávání - "R.J.P. Smeets"

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

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.

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

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The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Autor: R.H. Triepels, Jan Loeffen, Jan A.M. Smeitink, L.P.W.J. van den Heuvel, F.J.M. Trijbels, R.J.P. Smeets

Publikováno v: Human Genetics, 103, pp. 557-563
Human Genetics, 103, 557-563

We report the cloning of the cDNA sequence of the nuclear-encoded NDUFA8 subunit of NADH: ubiquinone oxidoreductase, the first mitochondrial respiratory chain complex. The NDUFA8 open reading frame (ORF) includes 519 bp and encodes 172 amino acids (M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00b5216e4ef5cb67d86152a38030097
https://doi.org/10.1007/s004390050869

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Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art

Autor: L.P.W.J. van den Heuvel, Jan A.M. Smeitink, R.H. Triepels, Jan Loeffen, J.M.F. Trijbels, R.J.P. Smeets

Publikováno v: Human Molecular Genetics, 7, 1573-1579
Human Molecular Genetics, 7, pp. 1573-1579

The mitochondrial electron transport chain (mtETC) consists of four multi-subunit enzyme complexes. Complex I or NADH:ubiquinone oxidoreductase, the largest mtETC multisubunit complex, consists of approximately 41 subunits. Seven of these subunits ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d55e7e0eb5a0e8f18b644cf6e8d2d3f7
https://doi.org/10.1093/hmg/7.10.1573

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cDNA of eight nuclear encoded subunits of NADH: Ubiquinone oxidoreductase: Human complex I cDNA characterization completed

Autor: C.A.F. Buskens, Markus Schuelke, L.P.W.J. van den Heuvel, J. M. F. Trijbels, R.H. Triepels, Jan Loeffen, R.J.P. Smeets, Jan A.M. Smeitink

Publikováno v: Biochemical and Biophysical Research Communications, 253, 2, pp. 415-422
Biochemical and Biophysical Research Communications, 253, 415-422

NADH:ubiquinone oxidoreductase (complex I) is an extremely complicated multiprotein complex located in the inner mitochondrial membrane. Its main function is the transport of electrons from NADH to ubiquinone, which is accompanied by translocation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa350155dcd4cd723e02d5922641418
https://doi.org/10.1006/bbrc.1998.9786

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Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

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

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

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Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

Autor: R.H. Triepels, Jan A.M. Smeitink, Jan Loeffen, L.P.W.J. van den Heuvel, J. M. F. Trijbels, R.J.P. Smeets

Publikováno v: Human Genetics, 106, 385-391
Human Genetics, 106, 4, pp. 385-391

Deficiency of NADH:ubiquinone oxidoreductase, the first enzyme complex of the mitochondrial respiratory chain, is one of the most frequent causes of human mitochondrial encephalomyopathies. A relatively small percentage of human complex I deficiency

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be39da473605989ed5153f45ade3818
https://pubmed.ncbi.nlm.nih.gov/10830904

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Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

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

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

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Molecular characterization and mutational analysis in the human B17 subunit of the mitochondrial respiratory chain complex I

Autor: R.H. Triepels, R.J.P. Smeets, Jan A.M. Smeitink, Wim Ruitenbeek, Jan Loeffen, L.P.W.J. van den Heuvel, F.J.M. Trijbels

Publikováno v: Human Genetics, 103, 245-250
Human Genetics, 103, pp. 245-250

Bovine NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain consists of about 36 nuclear-encoded subunits. We review the current knowledge of the 15 human complex I subunits cloned so far, and report the 598-bp cDNA seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe4537ffc0848aedc3942a11320e9f2
http://hdl.handle.net/2066/224574

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