Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
Parfitt, David A., Lane, Amelia, Ramsden, Conor M., Carr, Amanda-Jayne F., Munro, Peter M., Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N., Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T., Hardcastle, Alison J., Coffey, Peter J., Cheetham, Michael E.
Published in Cell stem cell (02.06.2016)
Published in Cell stem cell (02.06.2016)
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Journal Article
DNAJ Proteins in neurodegeneration: essential and protective factors
Zarouchlioti, Christina, Parfitt, David A., Li, Wenwen, Gittings, Lauren M., Cheetham, Michael E.
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (19.01.2018)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (19.01.2018)
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Journal Article
The cell stress machinery and retinal degeneration
Athanasiou, Dimitra, Aguilà, Monica, Bevilacqua, Dalila, Novoselov, Sergey S., Parfitt, David A., Cheetham, Michael E.
Published in FEBS letters (27.06.2013)
Published in FEBS letters (27.06.2013)
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Journal Article
Histone arginine methylation regulates pluripotency in the early mouse embryo
Zernicka-Goetz, Magdalena, Torres-Padilla, Maria-Elena, Parfitt, David-Emlyn, Kouzarides, Tony
Published in Nature (11.01.2007)
Published in Nature (11.01.2007)
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Journal Article
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models
Dulla, Kalyan, Aguila, Monica, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A., Schulkens, Iris, Chan, Hee Lam, Schmidt, Iris, Beumer, Wouter, Vorthoren, Lars, Collin, Rob W.J., Garanto, Alejandro, Duijkers, Lonneke, Brugulat-Panes, Anna, Semo, Ma’ayan, Vugler, Anthony A., Biasutto, Patricia, Adamson, Peter, Cheetham, Michael E.
Published in Molecular therapy. Nucleic acids (07.09.2018)
Published in Molecular therapy. Nucleic acids (07.09.2018)
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Journal Article
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Arno, Gavin, Fiorentino, Alessia, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Cheetham, Michael E., Webster, Andrew R., van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A, Aguila, Monica, Thompson, Clare L, da Cruz, Lyndon, Coffey, Peter J, Chapple, J Paul, Hardcastle, Alison J, Cheetham, Michael E
Published in Human molecular genetics (01.07.2017)
Published in Human molecular genetics (01.07.2017)
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Journal Article
Formation of the embryonic-abembryonic axis of the mouse blastocyst: relationships between orientation of early cleavage divisions and pattern of symmetric/asymmetric divisions
Bischoff, Marcus, Parfitt, David-Emlyn, Zernicka-Goetz, Magdalena
Published in Development (Cambridge) (01.03.2008)
Published in Development (Cambridge) (01.03.2008)
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Journal Article
Role of Cdx2 and cell polarity in cell allocation and specification of trophectoderm and inner cell mass in the mouse embryo
Jedrusik, Agnieszka, Parfitt, David-Emlyn, Guo, Guoji, Skamagki, Maria, Grabarek, Joanna B, Johnson, Martin H, Robson, Paul, Zernicka-Goetz, Magdalena
Published in Genes & development (01.10.2008)
Published in Genes & development (01.10.2008)
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Journal Article
Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia
Kenkhuis, Boyd, van Eekeren, Michelle, Parfitt, David A., Ariyurek, Yavuz, Banerjee, Poulomi, Priller, Josef, van der Weerd, Louise, van Roon-Mom, Willeke M.C.
Published in Stem cell reports (14.06.2022)
Published in Stem cell reports (14.06.2022)
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Journal Article
Experimental synthesis and density functional theory investigation of radiation tolerance of Zr3(Al1‐xSix)C2 MAX phases
Zapata‐Solvas, Eugenio, Christopoulos, Stavros‐Richard G., Ni, Na, Parfitt, David C., Horlait, Denis, Fitzpatrick, Michael E., Chroneos, Alexander, Lee, William E.
Published in Journal of the American Ceramic Society (01.04.2017)
Published in Journal of the American Ceramic Society (01.04.2017)
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Journal Article
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Girard, Martine, Larivière, Roxanne, Parfitt, David A., Deane, Emily C., Gaudet, Rebecca, Nossova, Nadya, Blondeau, Francois, Prenosil, George, Vermeulen, Esmeralda G. M., Duchen, Michael R., Richter, Andrea, Shoubridge, Eric A., Gehring, Kalle, McKinney, R. Anne, Brais, Bernard, Chapple, J. Paul, McPherson, Peter S.
Published in Proceedings of the National Academy of Sciences - PNAS (31.01.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (31.01.2012)
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Journal Article
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Khan, Mubeen, Arno, Gavin, Fakin, Ana, Parfitt, David A., Dhooge, Patty P.A., Albert, Silvia, Bax, Nathalie M., Duijkers, Lonneke, Niblock, Michael, Hau, Kwan L., Bloch, Edward, Schiff, Elena R., Piccolo, Davide, Hogden, Michael C., Hoyng, Carel B., Webster, Andrew R., Cremers, Frans P.M., Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.
Published in Molecular therapy. Nucleic acids (04.09.2020)
Published in Molecular therapy. Nucleic acids (04.09.2020)
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Journal Article
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity
Aguilà, Monica, Bellingham, James, Athanasiou, Dimitra, Bevilacqua, Dalila, Duran, Yanai, Maswood, Ryea, Parfitt, David A, Iwawaki, Takao, Spyrou, Giannis, Smith, Alexander J, Ali, Robin R, Cheetham, Michael E
Published in Human molecular genetics (28.05.2020)
Published in Human molecular genetics (28.05.2020)
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Journal Article
Characterization and application of Bragg‐edge transmission imaging for strain measurement and crystallographic analysis on the IMAT beamline
Ramadhan, Ranggi S., Kockelmann, Winfried, Minniti, Triestino, Chen, Bo, Parfitt, David, Fitzpatrick, Michael E., Tremsin, Anton S.
Published in Journal of applied crystallography (01.04.2019)
Published in Journal of applied crystallography (01.04.2019)
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Journal Article
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
Agrawal, Smriti A, Burgoyne, Thomas, Eblimit, Aiden, Bellingham, James, Parfitt, David A, Lane, Amelia, Nichols, Ralph, Asomugha, Chinwe, Hayes, Matthew J, Munro, Peter M, Xu, Mingchu, Wang, Keqing, Futter, Clare E, Li, Yumei, Chen, Rui, Cheetham, Michael E
Published in Human molecular genetics (15.07.2017)
Published in Human molecular genetics (15.07.2017)
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