Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.

by Thomas Burgoyne, Amelia Lane, William E Laughlin, Michael E Cheetham, Clare E Futter
Published 2018-01-01

The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.

by John S Bett, Naheed Kanuga, Emma Richet, Gunter Schmidtke, Marcus Groettrup, Michael E Cheetham, Jacqueline van der Spuy
Published 2012-01-01

Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

by Sergey S Novoselov, Wendy J Mustill, Anna L Gray, James R Dick, Naheed Kanuga, Bernadett Kalmar, Linda Greensmith, Michael E Cheetham
Published 2013-01-01

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

by Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham
Published 2021-12-01

The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

by Juan Hidalgo-de-Quintana, Nele Schwarz, Ingrid P Meschede, Gabriele Stern-Schneider, Michael B Powner, Ewan E Morrison, Clare E Futter, Uwe Wolfrum, Michael E Cheetham, Jacqueline van der Spuy
Published 2015-01-01

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

by Conor M. Ramsden, Britta Nommiste, Amelia R. Lane, Amanda-Jayne F. Carr, Michael B. Powner, Matthew J. K. Smart, Li Li Chen, Manickam N. Muthiah, Andrew R. Webster, Anthony T. Moore, Michael E. Cheetham, Lyndon da Cruz, Peter J. Coffey
Published 2017-03-01

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

by Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A. Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma’ayan Semo, Anthony A. Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham
Published 2018-09-01

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

by Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Published 2012-01-01

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

by Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Published 2020-09-01