Nijtmans LG - Search Results

1

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

Oostra RJ, Van den Bogert C, Nijtmans LG, van Galen MJ, Zwart R, Bolhuis PA, Bleeker-Wagemakers EM. Oostra RJ, et al. Among authors: nijtmans lg. Am J Hum Genet. 1995 Oct;57(4):954-7. Am J Hum Genet. 1995. PMID: 7573056 Free PMC article. No abstract available.

2

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Nijtmans LG, Barth PG, Lincke CR, Van Galen MJ, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJ, Van den Bogert C. Nijtmans LG, et al. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193-201. doi: 10.1016/0925-4439(95)00044-5. Biochim Biophys Acta. 1995. PMID: 7727543 Free article.

3

Expression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene products.

Nijtmans LG, Spelbrink JN, Van Galen MJ, Zwaan M, Klement P, Van den Bogert C. Nijtmans LG, et al. Biochim Biophys Acta. 1995 Mar 16;1265(2-3):117-26. doi: 10.1016/0167-4889(94)00203-q. Biochim Biophys Acta. 1995. PMID: 7696340 Free article.

4

Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases.

Nijtmans LG, Klement P, Houstĕk J, van den Bogert C. Nijtmans LG, et al. Biochim Biophys Acta. 1995 Dec 12;1272(3):190-8. doi: 10.1016/0925-4439(95)00087-9. Biochim Biophys Acta. 1995. PMID: 8541352 Free article.

5

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.

Klement P, Nijtmans LG, Van den Bogert C, Houstĕk J. Klement P, et al. Among authors: nijtmans lg. Anal Biochem. 1995 Oct 10;231(1):218-24. doi: 10.1006/abio.1995.1523. Anal Biochem. 1995. PMID: 8678304

6

Cerebellar hypoplasia in respiratory chain dysfunction.

Lincke CR, van den Bogert C, Nijtmans LG, Wanders RJ, Tamminga P, Barth PG. Lincke CR, et al. Among authors: nijtmans lg. Neuropediatrics. 1996 Aug;27(4):216-8. doi: 10.1055/s-2007-973792. Neuropediatrics. 1996. PMID: 8892374

7

Assembly of cytochrome-c oxidase in cultured human cells.

Nijtmans LG, Taanman JW, Muijsers AO, Speijer D, Van den Bogert C. Nijtmans LG, et al. Eur J Biochem. 1998 Jun 1;254(2):389-94. doi: 10.1046/j.1432-1327.1998.2540389.x. Eur J Biochem. 1998. PMID: 9660196 Free article.

8

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Gardeitchik T, et al. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576219 Free PMC article.

9

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. Tiranti V, et al. Hum Mol Genet. 2000 Nov 1;9(18):2733-42. doi: 10.1093/hmg/9.18.2733. Hum Mol Genet. 2000. PMID: 11063732

10

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C. Pello R, et al. Among authors: nijtmans lg. Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19. Hum Mol Genet. 2008. PMID: 18806273

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