Zobrazeno 1 - 10
of 177
pro vyhledávání: '"Lightowlers, R."'
Autor:
Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538
American journal of human genetics, vol. 101, no. 4, pp. 525-538
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164
http://europepmc.org/articles/PMC5630164
Autor:
Rozanska, A., Richter-Dennerlein, R., Rorbach, J., Gao, F., Lewis, R., Chrzanowska-Lightowlers, Z., Lightowlers, R.
Publikováno v:
Biochem J
Accurate assembly and maturation of human mitochondrial ribosomes is essential for synthesis of the 13 polypeptides encoded by the mitochondrial genome. This process requires the correct integration of 80 proteins, 1 mt (mitochondrial)-tRNA and 2 mt-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::60a095d100953c06466b2e69e498a339
https://hdl.handle.net/21.11116/0000-000B-4C16-8
https://hdl.handle.net/21.11116/0000-000B-4C16-8
Autor:
Wilson, W. C., Hornig-Do, H.-T., Bruni, F., Chang, J. H., Jourdain, A. A., Martinou, J.-C., Falkenberg, M., Spahr, H., Larsson, N.-G., Lewis, R. J., Hewitt, L., Basle, A., Cross, H. E., Tong, L., Lebel, R. R., Crosby, A. H., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N.
Publikováno v:
Human Molecular Genetics
Hum Mol Genet
Human molecular genetics
Human molecular genetics, vol. 23, no. 23, pp. 6345-6355
Hum Mol Genet
Human molecular genetics
Human molecular genetics, vol. 23, no. 23, pp. 6345-6355
The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines established from family members.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9b8f57c426fcc56159d426a24768f329
http://europepmc.org/articles/PMC4222368
http://europepmc.org/articles/PMC4222368
Autor:
Kolanczyk, M., Pech, M., Zemojte, T., Yamamoto, H., Mikula, I., Calvaruso, M., van den Brand, M., Richter, R., Fischer, B., Ritz, A., Kossler, N., Thurisch, B., Spoerle, R., Smeitink, J., Kornak, U., Chan, D., Vingron, M., Martasek, P., Lightowlers, R., Nijtmans, L., Schuelke, M., Nierhaus, K., Mundlos, S.
Publikováno v:
Molecular Biology of the Cell
NOA1 is an evolutionarily conserved GTP binding protein, which localizes predominantly to mitochondria in mammalian cells. Based on bioinformatic analysis we predicted its possible involvement in ribosomal biogenesis, although, this had not been supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::97565ddd25ae85ac304eaf58fa959747
https://hdl.handle.net/11858/00-001M-0000-0010-77DA-011858/00-001M-0000-0010-77D9-1
https://hdl.handle.net/11858/00-001M-0000-0010-77DA-011858/00-001M-0000-0010-77D9-1
Akademický článek
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Autor:
Chinnery, P F, Zwijnenburg, P J, Walker, M, Howell, N, Taylor, R W, Lightowlers, R N, Bindoff, L, Turnbull, D M
Publikováno v:
American Journal of Medical Genetics Part A, 85(5), 498-501. Wiley-Liss Inc.
Chinnery, P F, Zwijnenburg, P J, Walker, M, Howell, N, Taylor, R W, Lightowlers, R N, Bindoff, L & Turnbull, D M 1999, ' Nonrandom tissue distribution of mutant mtDNA ', American Journal of Medical Genetics Part A, vol. 85, no. 5, pp. 498-501 .
Chinnery, P F, Zwijnenburg, P J, Walker, M, Howell, N, Taylor, R W, Lightowlers, R N, Bindoff, L & Turnbull, D M 1999, ' Nonrandom tissue distribution of mutant mtDNA ', American Journal of Medical Genetics Part A, vol. 85, no. 5, pp. 498-501 .
Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of inherited human disease. On a cellular level, the percentage of mutant mtDNA is the principal factor behind the expression of the genetic defect. Marked variation in the level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45d6f9fb9b60ccf5b617cecb67890e66
https://research.vumc.nl/en/publications/34f975f5-efd9-49e7-a93c-38bc1562375c
https://research.vumc.nl/en/publications/34f975f5-efd9-49e7-a93c-38bc1562375c
Publikováno v:
Mitochondrial Dysfunction in Neurodegenerative Disorders; 2012, p3-18, 16p
Akademický článek
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Akademický článek
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