Works by Cheetham, Michael E.

Results: 58
    1

    A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 9, p. 821, doi. 10.1093/hmg/ddaf029
    By:
    • Corral-Serrano, Julio C;
    • Vaclavik, Veronika;
    • Sompele, Stijn Van de;
    • Kaminska, Karolina;
    • Jovanovic, Katarina;
    • Escher, Pascal;
    • Broeck, Filip Van den;
    • Cancellieri, Francesca;
    • Toulis, Vasileios;
    • Leroy, Bart P;
    • Zaeytijd, Julie de;
    • You, Zhixuan;
    • Ottaviani, Daniele;
    • Quinodoz, Mathieu;
    • Bordeanu, Gabriela;
    • Hardcastle, Alison J;
    • Coppieters, Frauke;
    • Tran, Viet H;
    • Cheetham, Michael E;
    • Rivolta, Carlo
    Publication type:
    Article
    2

    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
    By:
    • Varela, Malena Daich;
    • Bellingham, James;
    • Motta, Fabiana;
    • Jurkute, Neringa;
    • Ellingford, Jamie M;
    • Quinodoz, Mathieu;
    • Oprych, Kathryn;
    • Niblock, Michael;
    • Janeschitz-Kriegl, Lucas;
    • Kaminska, Karolina;
    • Cancellieri, Francesca;
    • Scholl, Hendrik P N;
    • Lenassi, Eva;
    • Schiff, Elena;
    • Knight, Hannah;
    • Black, Graeme;
    • Rivolta, Carlo;
    • Cheetham, Michael E;
    • Michaelides, Michel;
    • Mahroo, Omar A
    Publication type:
    Article
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    AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 8, p. 1310, doi. 10.1093/hmg/ddaa049
    By:
    • 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
    Publication type:
    Article
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    EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

    Published in:
    Nature Genetics, 2008, v. 40, n. 11, p. 1285, doi. 10.1038/ng.241
    By:
    • Abd El-Aziz, Mai M;
    • Barragan, Isabel;
    • O'Driscoll, Ciara A;
    • Goodstadt, Leo;
    • Prigmore, Elena;
    • Borrego, Salud;
    • Mena, Marcela;
    • Pieras, Juan I;
    • El-Ashry, Mohamed F;
    • Safieh, Leen Abu;
    • Shah, Amna;
    • Cheetham, Michael E;
    • Carter, Nigel P;
    • Chakarova, Christina;
    • Ponting, Chris P;
    • Bhattacharya, Shomi S;
    • Antinolo, Guillermo
    Publication type:
    Article
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    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
    By:
    • Fiorentino, Alessia;
    • Fujinami, Kaoru;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Pontikos, Nikolas;
    • Arasanz Armengol, Monica;
    • Plagnol, Vincent;
    • Hayashi, Takaaki;
    • Iwata, Takeshi;
    • Parker, Matthew;
    • Fowler, Tom;
    • Rendon, Augusto;
    • Gardner, Jessica C.;
    • Henderson, Robert H.;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.;
    • for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
    Publication type:
    Article
    16

    Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
    By:
    • Gardner, Jessica C.;
    • Liew, Gerald;
    • Quan, Ying‐Hua;
    • Ermetal, Burcu;
    • Ueyama, Hisao;
    • Davidson, Alice E.;
    • Schwarz, Nele;
    • Kanuga, Naheed;
    • Chana, Ravinder;
    • Maher, Eamonn R.;
    • Webster, Andrew R.;
    • Holder, Graham E.;
    • Robson, Anthony G.;
    • Cheetham, Michael E.;
    • Liebelt, Jan;
    • Ruddle, Jonathan B.;
    • Moore, Anthony T.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.
    Publication type:
    Article
    17

    Mutations in the CACNA1F and NYX genes in British CSNBX families.

    Published in:
    Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9106
    By:
    • Zito, Ilaria;
    • Allen, Louise E.;
    • Patel, Reshma J.;
    • Meindl, Alfons;
    • Bradshaw, Keith;
    • Yates, John R.;
    • Bird, Alan C.;
    • Erskine, Lynda;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Poopalasundaram, Subathra;
    • Moore, Anthony T.;
    • Trump, Dorothy;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1469686
    By:
    • de Bruijn, Suzanne E.;
    • Panneman, Daan M.;
    • Weisschuh, Nicole;
    • Cadena, Elizabeth L.;
    • Boonen, Erica G. M.;
    • Holtes, Lara K.;
    • Astuti, Galuh D. N.;
    • Cremers, Frans P. M.;
    • Leijsten, Nico;
    • Corominas, Jordi;
    • Gilissen, Christian;
    • Skowronska, Anna;
    • Woodley, Jessica;
    • Beggs, Andrew D.;
    • Toulis, Vasileios;
    • Chen, Di;
    • Cheetham, Michael E.;
    • Hardcastle, Alison J.;
    • McLaren, Terri L.;
    • Lamey, Tina M.
    Publication type:
    Article
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    The cell stress machinery and retinal degeneration.

    Published in:
    FEBS Letters, 2013, v. 587, n. 13, p. 2008, doi. 10.1016/j.febslet.2013.05.020
    By:
    • Athanasiou, Dimitra;
    • Aguilà, Monica;
    • Bevilacqua, Dalila;
    • Novoselov, Sergey S.;
    • Parfitt, David A.;
    • Cheetham, Michael E.
    Publication type:
    Article
    23

    Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

    Published in:
    PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
    By:
    • Bhattacharyya, Nihar;
    • Chai, Niuzheng;
    • Hafford-Tear, Nathaniel J.;
    • Sadan, Amanda N.;
    • Szabo, Anita;
    • Zarouchlioti, Christina;
    • Jedlickova, Jana;
    • Leung, Szi Kay;
    • Liao, Tianyi;
    • Dudakova, Lubica;
    • Skalicka, Pavlina;
    • Parekh, Mohit;
    • Moghul, Ismail;
    • Jeffries, Aaron R.;
    • Cheetham, Michael E.;
    • Muthusamy, Kirithika;
    • Hardcastle, Alison J.;
    • Pontikos, Nikolas;
    • Liskova, Petra;
    • Tuft, Stephen J.
    Publication type:
    Article
    24

    Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

    Published in:
    2016
    By:
    • Arno, Gavin;
    • Holder, Graham E.;
    • Chakarova, Christina;
    • Kohl, Susanne;
    • Pontikos, Nikolas;
    • Fiorentino, Alessia;
    • Plagnol, Vincent;
    • Cheetham, Michael E.;
    • Hardcastle, Alison J.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • UK Inherited Retinal Disease Consortium
    Publication type:
    journal article
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    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245
    By:
    • 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.
    Publication type:
    Article
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    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143
    By:
    • 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.
    Publication type:
    Article
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    Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 2, p. 305, doi. 10.1093/hmg/ddw387
    By:
    • Athanasiou, Dimitra;
    • Aguila, Monica;
    • Opefi, Chikwado A.;
    • South, Kieron;
    • Bellingham, James;
    • Bevilacqua, Dalila;
    • Munro, Peter M.;
    • Kanuga, Naheed;
    • Mackenzie, Francesca E.;
    • Dubis, Adam M.;
    • Georgiadis, Anastasios;
    • Graca, Anna B.;
    • Pearson, Rachael A.;
    • Ali, Robin R.;
    • Sakami, Sanae;
    • Palczewski, Krzysztof;
    • Sherman, Michael Y.;
    • Reeves, Philip J.;
    • Cheetham, Michael E.
    Publication type:
    Article
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    Hsp90 inhibition protects against inherited retinal degeneration.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2164
    By:
    • Aguilà, Mònica;
    • Bevilacqua, Dalila;
    • McCulley, Caroline;
    • Schwarz, Nele;
    • Athanasiou, Dimitra;
    • Kanuga, Naheed;
    • Novoselov, Sergey S.;
    • Lange, Clemens A.K.;
    • Ali, Robin R.;
    • Bainbridge, James W.;
    • Gias, Carlos;
    • Coffey, Peter J.;
    • Garriga, Pere;
    • Cheetham, Michael E.
    Publication type:
    Article
    34

    NUB1 modulation of GSK3β reduces tau aggregation.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 24, p. 5254, doi. 10.1093/hmg/dds376
    By:
    • Richet, Emma;
    • Pooler, Amy M.;
    • Rodriguez, Teresa;
    • Novoselov, Sergey S.;
    • Schmidtke, Gunter;
    • Groettrup, Marcus;
    • Hanger, Diane P.;
    • Cheetham, Michael E.;
    • van der Spuy, Jacqueline
    Publication type:
    Article
    35

    Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194
    By:
    • Webb, Tom R.;
    • Parfitt, David A.;
    • Gardner, Jessica C.;
    • Martinez, Ariadna;
    • Bevilacqua, Dalila;
    • Davidson, Alice E.;
    • Zito, Ilaria;
    • Thiselton, Dawn L.;
    • Ressa, Jacob H.C.;
    • Apergi, Marina;
    • Schwarz, Nele;
    • Kanuga, Naheed;
    • Michaelides, Michel;
    • Cheetham, Michael E.;
    • Gorin, Michael B.;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.

    Published in:
    PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032330
    By:
    • Mei Hong Tan;
    • Mackay, Donna S.;
    • Jill Cowing;
    • Tran, Hoai Viet;
    • Smith, Alexander J.;
    • Wright, Genevieve A.;
    • Dev-Borman, Arundhati;
    • Henderson, Robert H.;
    • Moradi, Phillip;
    • Russell-Eggitt, Isabelle;
    • MacLaren, Robert E.;
    • Robson, Anthony G.;
    • Cheetham, Michael E.;
    • Thompson, Dorothy A.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Ali, Robin R.;
    • Moore, Anthony T.
    Publication type:
    Article
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    Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.

    Published in:
    Cells (2073-4409), 2023, v. 12, n. 12, p. 1575, doi. 10.3390/cells12121575
    By:
    • Corral-Serrano, Julio C.;
    • Sladen, Paul E.;
    • Ottaviani, Daniele;
    • Rezek, Olivia F.;
    • Athanasiou, Dimitra;
    • Jovanovic, Katarina;
    • van der Spuy, Jacqueline;
    • Mansfield, Brian C.;
    • Cheetham, Michael E.
    Publication type:
    Article
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