| Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups DA Parfitt, A Lane, CM Ramsden, AJF Carr, PM Munro, K Jovanovic, ... Cell stem cell 18 (6), 769-781, 2016 | 314 | 2016 |
| Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) M Girard, R Larivière, DA Parfitt, EC Deane, R Gaudet, N Nossova, ... Proceedings of the National Academy of Sciences 109 (5), 1661-1666, 2012 | 203 | 2012 |
| The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 DA Parfitt, GJ Michael, EGM Vermeulen, NV Prodromou, TR Webb, ... Human molecular genetics 18 (9), 1556-1565, 2009 | 189 | 2009 |
| Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) TR Webb, DA Parfitt, JC Gardner, A Martinez, D Bevilacqua, AE Davidson, ... Human molecular genetics 21 (16), 3647-3654, 2012 | 170 | 2012 |
| The cell stress machinery and retinal degeneration D Athanasiou, M Aguilà, D Bevilacqua, SS Novoselov, DA Parfitt, ... FEBS letters 587 (13), 2008-2017, 2013 | 163 | 2013 |
| Splice-modulating oligonucleotide QR-110 restores CEP290 mRNA and function in human c. 2991+ 1655A> G LCA10 models K Dulla, M Aguila, A Lane, K Jovanovic, DA Parfitt, I Schulkens, HL Chan, ... Molecular Therapy-Nucleic Acids 12, 730-740, 2018 | 135 | 2018 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 130 | 2016 |
| DNAJ Proteins in neurodegeneration: essential and protective factors C Zarouchlioti, DA Parfitt, W Li, LM Gittings, ME Cheetham Philosophical Transactions of the Royal Society B: Biological Sciences 373 …, 2018 | 114 | 2018 |
| Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism HL Storr, B Kind, DA Parfitt, JP Chapple, M Lorenz, K Koehler, A Huebner, ... Molecular endocrinology 23 (12), 2086-2094, 2009 | 87 | 2009 |
| The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa DA Parfitt, M Aguila, CH McCulley, D Bevilacqua, HF Mendes, ... Cell death & disease 5 (5), e1236-e1236, 2014 | 83 | 2014 |
| Arl3 and RP2 regulate the trafficking of ciliary tip kinesins N Schwarz, A Lane, K Jovanovic, DA Parfitt, M Aguila, CL Thompson, ... Human molecular genetics 26 (13), 2480-2492, 2017 | 78 | 2017 |
| Detailed phenotyping and therapeutic strategies for intronic ABCA4 variants in Stargardt disease M Khan, G Arno, A Fakin, DA Parfitt, PPA Dhooge, S Albert, NM Bax, ... Molecular Therapy-Nucleic Acids 21, 412-427, 2020 | 63 | 2020 |
| REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking SA Agrawal, T Burgoyne, A Eblimit, J Bellingham, DA Parfitt, A Lane, ... Human molecular genetics 26 (14), 2667-2677, 2017 | 41 | 2017 |
| Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia B Kenkhuis, M Van Eekeren, DA Parfitt, Y Ariyurek, P Banerjee, J Priller, ... Stem Cell Reports 17 (6), 1351-1365, 2022 | 30 | 2022 |
| Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies DA Parfitt, A Lane, C Ramsden, K Jovanovic, PJ Coffey, AJ Hardcastle, ... Biochemical Society Transactions 44 (5), 1245-1251, 2016 | 22 | 2016 |
| AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity M Aguilà, J Bellingham, D Athanasiou, D Bevilacqua, Y Duran, ... Human Molecular Genetics 29 (8), 1310-1318, 2020 | 13 | 2020 |
| Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain D Ottaviani, O Marin, G Arrigoni, C Franchin, J Vilardell, M Sandre, W Li, ... Human Molecular Genetics 26 (3), 611-623, 2017 | 12 | 2017 |
| Targeting the proteostasis network in rhodopsin retinitis pigmentosa DA Parfitt, ME Cheetham Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 479-484, 2016 | 11 | 2016 |
| Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients E Daoutsali, BA Pepers, S Stamatakis, LM van der Graaf, GM Terwindt, ... Frontiers in Aging Neuroscience 14, 1048584, 2023 | 3 | 2023 |
| Hsp70 Chaperone System in Vesicular Trafficking DA Parfitt, DC Campbell, JP Chapple, B Henderson, AG Pockley Cellular Trafficking of Cell Stress Proteins in Health and Disease, 87, 2012 | 2 | 2012 |
