Publikationsdatum:
2015-01-11
Beschreibung:
Article Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. Here the authors link mutations in the gene PNPLA6 with childhood blindness in seven families with retinal degeneration and show that the gene plays a role in photoreceptor survival in Drosophila . Nature Communications doi: 10.1038/ncomms6614 Authors: S. Kmoch, J. Majewski, V. Ramamurthy, S. Cao, S. Fahiminiya, H. Ren, I. M. MacDonald, I. Lopez, V. Sun, V. Keser, A. Khan, V. Stránecký, H. Hartmannová, A. Přistoupilová, K. Hodaňová, L. Piherová, L. Kuchař, A. Baxová, R. Chen, O. G. P. Barsottini, A. Pyle, H. Griffin, M. Splitt, J. Sallum, J. L. Tolmie, J. R. Sampson, P. Chinnery, E. Banin, D. Sharon, S. Dutta, R. Grebler, C. Helfrich-Foerster, J. L. Pedroso, D. Kretzschmar, M. Cayouette, R. K. Koenekoop
Digitale ISSN:
2041-1723
Thema:
Biologie
,
Chemie und Pharmazie
,
Allgemeine Naturwissenschaft
,
Physik