Epigenetic Modification Affecting Expression of Cell Polarity and Cell Fate Genes to Regulate Lineage Specification in the Early Mouse Embryo

por Parfitt, David-Emlyn, Zernicka-Goetz, Magdalena
Publicado 2010

Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia

por Kenkhuis, Boyd, van Eekeren, Michelle, Parfitt, David A., Ariyurek, Yavuz, Banerjee, Poulomi, Priller, Josef, van der Weerd, Louise, van Roon-Mom, Willeke M.C.
Publicado 2022

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain

por Ottaviani, Daniele, Marin, Oriano, Arrigoni, Giorgio, Franchin, Cinzia, Vilardell, Jordi, Sandre, Michele, Li, Wenwen, Parfitt, David A., Pinna, Lorenzo A., Cheetham, Michael E., Ruzzene, Maria
Publicado 2017

AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity

por 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
Publicado 2020

Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients

por Daoutsali, Elena, Pepers, Barry A., Stamatakis, Stavros, van der Graaf, Linda M., Terwindt, Gisela M., Parfitt, David A., Buijsen, Ronald A. M., van Roon-Mom, Willeke M. C.
Publicado 2023

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

por 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.
Publicado 2017

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

por 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.
Publicado 2017

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

por Parfitt, David A., Michael, Gregory J., Vermeulen, Esmeralda G.M., Prodromou, Natalia V., Webb, Tom R., Gallo, Jean-Marc, Cheetham, Michael E., Nicoll, William S., Blatch, Gregory L., Chapple, J. Paul
Publicado 2009

Perturbation of cytokinin and ethylene-signalling pathways explain the strong rooting phenotype exhibited by Arabidopsis expressing the Schizosaccharomyces pombe mitotic inducer, c...

por Spadafora, Natasha D, Parfitt, David, Marchbank, Angela, Li, Sherong, Bruno, Leonardo, Vaughan, Rhys, Nieuwland, Jeroen, Buchanan-Wollaston, Vicky, Herbert, Robert J, Bitonti, Maria Beatrice, Doonan, John, Albani, Diego, Prinsen, Els, Francis, Dennis, Rogers, Hilary J
Publicado 2012

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

por 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.
Publicado 2017

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

por 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.
Publicado 2016

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

por 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.
Publicado 2018

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

por 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.
Publicado 2020

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

por 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., 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
Publicado 2016