Search

Your search keyword '"Lako, Majlinda"' showing total 19 results
Start Over Author "Lako, Majlinda" Publisher springer science and business media llc
19 results on '"Lako, Majlinda"'

1. PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects

Author

Atkinson, Robert, primary, Georgiou, Maria, additional, Yang, Chunbo, additional, Szymanska, Katarzyna, additional, Lahat, Albert, additional, Vasconcelos, Elton J. R., additional, Ji, Yanlong, additional, Moya Molina, Marina, additional, Collin, Joseph, additional, Queen, Rachel, additional, Dorgau, Birthe, additional, Watson, Avril, additional, Kurzawa-Akanbi, Marzena, additional, Laws, Ross, additional, Saxena, Abhijit, additional, Shyan Beh, Chia, additional, Siachisumo, Chileleko, additional, Goertler, Franziska, additional, Karwatka, Magdalena, additional, Davey, Tracey, additional, Inglehearn, Chris F., additional, McKibbin, Martin, additional, Lührmann, Reinhard, additional, Steel, David H., additional, Elliott, David J., additional, Armstrong, Lyle, additional, Urlaub, Henning, additional, Ali, Robin R., additional, Grellscheid, Sushma-Nagaraja, additional, Johnson, Colin A., additional, Mozaffari-Jovin, Sina, additional, and Lako, Majlinda, additional

Published
2024
Full Text
View/download PDF

7. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Author

Buskin, Adriana, primary, Zhu, Lili, additional, Chichagova, Valeria, additional, Basu, Basudha, additional, Mozaffari-Jovin, Sina, additional, Dolan, David, additional, Droop, Alastair, additional, Collin, Joseph, additional, Bronstein, Revital, additional, Mehrotra, Sudeep, additional, Farkas, Michael, additional, Hilgen, Gerrit, additional, White, Kathryn, additional, Pan, Kuan-Ting, additional, Treumann, Achim, additional, Hallam, Dean, additional, Bialas, Katarzyna, additional, Chung, Git, additional, Mellough, Carla, additional, Ding, Yuchun, additional, Krasnogor, Natalio, additional, Przyborski, Stefan, additional, Zwolinski, Simon, additional, Al-Aama, Jumana, additional, Alharthi, Sameer, additional, Xu, Yaobo, additional, Wheway, Gabrielle, additional, Szymanska, Katarzyna, additional, McKibbin, Martin, additional, Inglehearn, Chris F., additional, Elliott, David J., additional, Lindsay, Susan, additional, Ali, Robin R., additional, Steel, David H., additional, Armstrong, Lyle, additional, Sernagor, Evelyne, additional, Urlaub, Henning, additional, Pierce, Eric, additional, Lührmann, Reinhard, additional, Grellscheid, Sushma-Nagaraja, additional, Johnson, Colin A., additional, and Lako, Majlinda, additional

Published
2018
Full Text
View/download PDF

10. Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular

Author

Izuogu, Osagie G., primary, Alhasan, Abd A., additional, Mellough, Carla, additional, Collin, Joseph, additional, Gallon, Richard, additional, Hyslop, Jonathon, additional, Mastrorosa, Francesco K., additional, Ehrmann, Ingrid, additional, Lako, Majlinda, additional, Elliott, David J., additional, Santibanez-Koref, Mauro, additional, and Jackson, Michael S., additional

Published
2018
Full Text
View/download PDF

12. Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

Author

Russell, Oliver M., primary, Fruh, Isabelle, additional, Rai, Pavandeep K., additional, Marcellin, David, additional, Doll, Thierry, additional, Reeve, Amy, additional, Germain, Mitchel, additional, Bastien, Julie, additional, Rygiel, Karolina A., additional, Cerino, Raffaele, additional, Sailer, Andreas W., additional, Lako, Majlinda, additional, Taylor, Robert W., additional, Mueller, Matthias, additional, Lightowlers, Robert N., additional, Turnbull, Doug M., additional, and Helliwell, Stephen B., additional

Published
2018
Full Text
View/download PDF

13. iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors

Author

Melguizo-Sanchis, Dario, primary, Xu, Yaobo, additional, Taheem, Dheraj, additional, Yu, Min, additional, Tilgner, Katarzyna, additional, Barta, Tomas, additional, Gassner, Katja, additional, Anyfantis, George, additional, Wan, Tengfei, additional, Elango, Ramu, additional, Alharthi, Sameer, additional, El-Harouni, Ashraf A., additional, Przyborski, Stefan, additional, Adam, Soheir, additional, Saretzki, Gabriele, additional, Samarasinghe, Sujith, additional, Armstrong, Lyle, additional, and Lako, Majlinda, additional

Published
2018
Full Text
View/download PDF

15. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Author

Megaw, Roly, primary, Abu-Arafeh, Hashem, additional, Jungnickel, Melissa, additional, Mellough, Carla, additional, Gurniak, Christine, additional, Witke, Walter, additional, Zhang, Wei, additional, Khanna, Hemant, additional, Mill, Pleasantine, additional, Dhillon, Baljean, additional, Wright, Alan F., additional, Lako, Majlinda, additional, and ffrench-Constant, Charles, additional

Published
2017
Full Text
View/download PDF

18. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Author

Bashir, Rumaisa, primary, Britton, Stephen, additional, Strachan, Tom, additional, Keers, Sharon, additional, Vafiadaki, Elizabeth, additional, Lako, Majlinda, additional, Richard, Isabelle, additional, Marchand, Sylvie, additional, Bourg, Nathalie, additional, Argov, Zohar, additional, Sadeh, Menachem, additional, Mahjneh, Ibrahim, additional, Marconi, Giampiero, additional, Passos-Bueno, Maria Rita, additional, Moreira, Eloisa de S, additional, Zatz, Mayana, additional, Beckmann, Jacques S., additional, and Bushby, Kate, additional

Published
1998
Full Text
View/download PDF

19. Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation

Author

Chichagova, Valeria, Hallam, Dean, Collin, Joseph, Buskin, Adriana, Saretzki, Gabriele, Armstrong, Lyle, Yu-Wai-Man, Patrick, Lako, Majlinda, and Steel, David H

Subjects
Male, RNA, Transfer, Leu, Induced Pluripotent Stem Cells, Primary Cell Culture, Cell Differentiation, Retinal Pigment Epithelium, Fibroblasts, Middle Aged, Retinal Photoreceptor Cell Outer Segment, DNA, Mitochondrial, 3. Good health, Geographic Atrophy, Mutation, Humans, Female, Cells, Cultured, Aged, Skin
Abstract

The m.3243A > G mitochondrial DNA mutation was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The phenotypic spectrum of the m.3243A > G mutation has since expanded to include a spectrum of neuromuscular and ocular manifestations, including reduced vision with retinal degeneration, the underlying mechanism of which remains unclear. We used dermal fibroblasts, from patients with retinal pathology secondary to the m.3243A > G mutation to generate heteroplasmic induced pluripotent stem cell (hiPSC) clones. RPE cells differentiated from these hiPSCs contained morphologically abnormal mitochondria and melanosomes, and exhibited marked functional defects in phagocytosis of photoreceptor outer segments. These findings have striking similarities to the pathological abnormalities reported in RPE cells studied from post-mortem tissues of affected m.3243A > G mutation carriers. Overall, our results indicate that RPE cells carrying the m.3243A > G mutation have a reduced ability to perform the critical physiological function of phagocytosis. Aberrant melanosomal morphology may potentially have consequences on the ability of the cells to perform another important protective function, namely absorption of stray light. Our in vitro cell model could prove a powerful tool to further dissect the complex pathophysiological mechanisms that underlie the tissue specificity of the m.3243A > G mutation, and importantly, allow the future testing of novel therapeutic agents.

Catalog

Books, media, physical & digital resources
See catalog results