Muscle 3243A -> G mutation load and capacity of the mitochondrial energy-generating system

Autor: Bart W. Smits, Baziel G. M. van Engelen, Rob C.A. Sengers, Jan A.M. Smeitink, Marjo S. van der Knaap, Marloes H. Siers, Richard J. Rodenburg, Frans J.M. Trijbels, Francjan J. van Spronsen, Liesbeth T. Wintjes, Markus Schuelke, Barbara Lucke, Eva Morava, Henk J. ter Laak, Antoon J.M. Janssen, Lambert P. van den Heuvel, Frans A. Hol

Publikováno v: Annals of Neurology, 63(4), 473-481. John Wiley and Sons Inc.
Annals of Neurology, 63, 473-81
Annals of neurology, 63(4), 473-481. John Wiley and Sons Inc.
Janssen, A J M, Schuelke, M, Smeitink, J A M, Trijbels, F J M, Sengers, R C A, Lucke, B, Wintjes, L T M, Morava, E, van Engelen, B G M, Smits, B W, Hol, F A, Siers, M H, Ter Laak, H, van der Knaap, M S, van Spronsen, F J, Rodenburg, R J T & van den Heuvel, L P 2008, ' Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system ', Annals of Neurology, vol. 63, no. 4, pp. 473-481 . https://doi.org/10.1002/ana.21328
Annals of Neurology, 63(4), 473-481. Wiley
Annals of Neurology, 63, 4, pp. 473-81

Contains fulltext : 70753.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The mitochondrial energy-generating system (MEGS) encompasses the mitochondrial enzymatic reactions from oxidation of pyruvate to the export of adenosine triphosphate.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7309e350811f28f7884ed308e7f876fe
https://hdl.handle.net/11370/e6d330f9-2287-4630-80cc-c24222097463

Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV—Deficient Patients Revealed Five Mutations

Autor: Marieke J H Coenen, Jeanette M. Pots, Frans J.M. Trijbels, Lambert P. van den Heuvel, Frans A. Hol, Jan A.M. Smeitink, Edwin P. M. van Kaauwen

Publikováno v: Journal of Child Neurology. 21:508-511

The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5efa9334cbfac9b8003c7ed66abe99d9
https://doi.org/10.1177/08830738060210062501

Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis

Autor: Jack F.M. Wetzels, Frans A. Hol, L.P.W.J. van den Heuvel, Eric J. Steenbergen, M.M. Lowik

Publikováno v: Nephrology, Dialysis, Transplantation, 20, 336-41
Nephrology, Dialysis, Transplantation, 20, 2, pp. 336-41

Contains fulltext : 48823.pdf (Publisher’s version ) (Closed access) BACKGROUND: The heterogeneity of mitochondrial cytopathies is characteristic for this group of disorders, which preferentially affect the muscle and nerve system. The A3243G trans

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf5cb48adca3e43777cc68f18738309
https://doi.org/10.1093/ndt/gfh546

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene

Autor: Regina Ensenauer, Marloes H. Siers, H.J. ter Laak, Jan A.M. Smeitink, C. Boelen, Frans J.M. Trijbels, Frans A. Hol, Olga Grafakou, K Otfried Schwab

Publikováno v: Journal of Inherited Metabolic Disease, 26, 593-600
Journal of Inherited Metabolic Disease, 26, 6, pp. 593-600

Item does not contain fulltext A 13-year-old girl with non-familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged-red fibres and 80% COX-negat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99d51ecbaff1672f10393aa23a7504d
https://doi.org/10.1023/a:1025960300710

A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects

Autor: Frans A. Hol, Riko Klootwijk, Catharina E. E. M. van der Zee, Wiljan Wilms, Barbara Franke, Roelie T. de Boer, Edwin C. M. Mariman

Publikováno v: ResearcherID
Human Molecular Genetics, 9, 1615-1622
Human Molecular Genetics, 9, pp. 1615-1622

Bent tail is a mouse model for human neural tube defects. Bent tail mice are characterized by a shortened, kinked tail. We have observed numerous aberrations in Bent tail embryos including exencephaly, rotation defects and occasionally omphalocele, o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c70cda74ca762fc619ba1e965dcc21
https://doi.org/10.1093/hmg/9.11.1615