The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients

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

Publikováno v: Journal of Inherited Metabolic Disease, 22, pp. 19-28
Journal of Inherited Metabolic Disease, 22, 19-28

We have cloned the cDNA of the NDUFS5 subunit (15 kDa) of the human mitochondrial respiratory chain complex NADH: ubiquinone oxidoreductase (complex I). The open reading frame consists of 321 base-pairs, coding for 106 amino acids, with a calculated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b1cff12f8caffef076b45df1fc58d42
https://hdl.handle.net/2066/224352

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

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

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

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology

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

Publikováno v: Journal of Inherited Metabolic Disease, 22, pp. 163-173
Journal of Inherited Metabolic Disease, 22, 163-173

We present the cDNA sequence of the human mitochondrial acyl carrier protein NDUFAB1, a nuclear-encoded subunit of complex I of the mitochondrial respiratory chain. We obtained the NDUFAB1 cDNA using the cDNA sequence of the bovine mitochondrial acyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3ecb373250201f93fc5ea1416ab2d1
https://doi.org/10.1023/A:1005402020569