Works matching AU Cheetham, Michael E.

Results: 58

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

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

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

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

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Published in:

Nature Genetics, 2005, v. 37, n. 2, p. 166, doi. 10.1038/ng1501

By:

Metherell, Louise A;
Chapple, J Paul;
Cooray, Sadani;
David, Alessia;
Becker, Christian;
Rüschendorf, Franz;
Naville, Danielle;
Begeot, Martine;
Khoo, Bernard;
Nürnberg, Peter;
Huebner, Angela;
Cheetham, Michael E;
Clark, Adrian J L

Publication type:

Article

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121440

By:

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

Publication type:

Article

Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1<sup>G93A</sup> Mouse Model of Amyotrophic Lateral Sclerosis.

Published in:

PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073944

By:

Novoselov, Sergey S.;
Mustill, Wendy J.;
Gray, Anna L.;
Dick, James R.;
Kanuga, Naheed;
Kalmar, Bernadett;
Greensmith, Linda;
Cheetham, Michael E.

Publication type:

Article

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

The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030866

By:

Bett, John S.;
Kanuga, Naheed;
Richet, Emma;
Schmidtke, Gunter;
Groettrup, Marcus;
Cheetham, Michael E.;
Der Spuy, Jacqueline van

Publication type:

Article

Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells.

Published in:

Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01942-z

By:

Whitehead, Michael;
Harvey, Joshua P.;
Sladen, Paul E.;
Becchi, Giada;
Singh, Kritarth;
Sun, Yujiao Jennifer;
Burgoyne, Thomas;
Duchen, Michael R.;
Yu-Wai-Man, Patrick;
Cheetham, Michael E.

Publication type:

Article

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Published in:

Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01943-y

By:

Athanasiou, Dimitra;
Afanasyeva, Tess A. V.;
Chai, Niuzheng;
Ziaka, Kalliopi;
Jovanovic, Katarina;
Guarascio, Rosellina;
Boldt, Karsten;
Corral-Serrano, Julio C.;
Kanuga, Naheed;
Roepman, Ronald;
Collin, Rob W. J.;
Cheetham, Michael E.

Publication type:

Article

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 2, p. 236, doi. 10.1080/13816810.2017.1381977

By:

Berry, Vanita;
Pontikos, Nikolas;
Albarca-Aguilera, Monica;
Plagnol, Vincent;
Massouras, Andreas;
Prescott, DeQuincy;
Moore, Anthony T.;
Arno, Gavin;
Cheetham, Michael E.;
Michaelides, Michel

Publication type:

Article

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

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3478, doi. 10.1093/hmg/ddac128

By:

Sladen, Paul E;
Jovanovic, Katarina;
Guarascio, Rosellina;
Ottaviani, Daniele;
Salsbury, Grace;
Novoselova, Tatiana;
Chapple, J Paul;
Yu-Wai-Man, Patrick;
Cheetham, Michael E

Publication type:

Article

Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3338, doi. 10.1093/hmg/ddaa190

By:

Athanasiou, Dimitra;
Bevilacqua, Dalila;
Aguila, Monica;
McCulley, Caroline;
Kanuga, Naheed;
Takao Iwawaki;
Chapple, J. Paul;
Cheetham, Michael E.

Publication type:

Article

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

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy–lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 80, doi. 10.1093/hmg/ddz255

By:

Guarascio, Rosellina;
Salih, Dervis;
Yasvoina, Marina;
Edwards, Frances A;
Cheetham, Michael E;
van der Spuy, Jacqueline

Publication type:

Article

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4896, doi. 10.1093/hmg/ddx370

By:

Athanasiou, Dimitra;
Aguila, Monica;
Bellingham, James;
Kanuga, Naheed;
Adamson, Peter;
Cheetham, Michael E.

Publication type:

Article

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

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

Published in:

Human Molecular Genetics, 2017, v. 26, n. 14, p. 2667, doi. 10.1093/hmg/ddx149

By:

Agrawal, Smriti A.;
Burgoyne, Thomas;
Eblimit, Aiden;
Bellingham, James;
Parfitt, David A.;
Lane, Amelia;
Nichols, Ralph;
Asomugha, Chinwe;
Hayes, Matthew J.;
Munro, Peter M.;
Mingchu Xu;
Keqing Wang;
Futter, Clare E.;
Yumei Li;
Rui Chen;
Cheetham, Michael E.

Publication type:

Article

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

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

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 611, doi. 10.1093/hmg/ddw420

By:

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

Publication type:

Article

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

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 4, p. 972, doi. 10.1093/hmg/ddu509

By:

Schwarz, Nele;
Carr, Amanda-Jayne;
Lane, Amelia;
Moeller, Fabian;
Li Li Chen;
Aguilà, Mònica;
Nommiste, Britta;
Muthiah, Manickam N.;
Kanuga, Naheed;
Wolfrum, Uwe;
Nagel-Wolfrum, Kerstin;
da Cruz, Lyndon;
Coffey, Peter J.;
Cheetham, Michael E.;
Hardcastle, Alison J.

Publication type:

Article

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6594, doi. 10.1093/hmg/ddu385

By:

Athanasiou, Dimitra;
Bevilacqua, Dalila;
Aguila, Monica;
McCulley, Caroline;
Kanuga, Naheed;
Iwawaki, Takao;
Paul Chapple, J.;
Cheetham, Michael E.

Publication type:

Article

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

Delineating the expanding phenotype associated with SCAPER gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202

By:

Fasham, James;
Arno, Gavin;
Lin, Siying;
Xu, Mingchu;
Carss, Keren J.;
Hull, Sarah;
Lane, Amelia;
Robson, Anthony G.;
Wenger, Olivia;
Self, Jay E.;
Harlalka, Gaurav V.;
Salter, Claire G.;
Schema, Lynn;
Moss, Timothy J.;
Cheetham, Michael E.;
Moore, Anthony T.;
Raymond, F. Lucy;
Chen, Rui;
Baple, Emma L.;
Webster, Andrew R.

Publication type:

Article

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.

Published in:

2016

By:

Han-Jou Chen;
Mitchell, Jacqueline C.;
Novoselov, Sergey;
Miller, Jack;
Nishimura, Agnes L.;
Scotter, Emma L.;
Vance, Caroline A.;
Cheetham, Michael E.;
Shaw, Christopher E.;
Chen, Han-Jou

Publication type:

journal article

Suppression of protein aggregation by chaperone modification of high molecular weight complexes.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1180, doi. 10.1093/brain/aws022

By:

Labbadia, John;
Novoselov, Sergey S.;
Bett, John S.;
Weiss, Andreas;
Paganetti, Paolo;
Bates, Gillian P.;
Cheetham, Michael E.

Publication type:

Article

Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.

Published in:

2006

By:

Borrell-Pagès, Maria;
Canals, Josep M.;
Cordelières, Fabrice P.;
Parker, J. Alex;
Pineda, José R.;
Grange, Ghislaine;
Bryson, Elzbieta A.;
Guillermier, Martine;
Hirsch, Etienne;
Hantraye, Philippe;
Cheetham, Michael E.;
Néri, Christian;
Alberch, Jordi;
Brouillet, Emmanuel;
Saudou, Frédéric;
Humbert, Sandrine;
Borrell-Pagès, Maria;
Cordelières, Fabrice P;
Pineda, José R;
Néri, Christian

Publication type:

journal article

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

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191048

By:

Burgoyne, Thomas;
Lane, Amelia;
Laughlin, William E.;
Cheetham, Michael E.;
Futter, Clare E.

Publication type:

Article

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

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

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 863, doi. 10.1093/hmg/ddr520

By:

Schwarz, Nele;
Novoselova, Tatiana V.;
Wait, Robin;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 1, p. 16, doi. 10.1093/hmg/ddq428

By:

Rose, Johanna M.;
Novoselov, Sergey S.;
Robinson, Philip A.;
Cheetham, Michael E.

Publication type:

Article

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2421, doi. 10.1093/hmg/ddq125

By:

Brooks, Simon P.;
Coccia, Margherita;
Tang, Hao R.;
Kanuga, Naheed;
Machesky, Laura M.;
Bailly, Maryse;
Cheetham, Michael E.;
Hardcastle, Alison J.

Publication type:

Article

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1358, doi. 10.1093/hmg/ddq012

By:

Evans, R. Jane;
Schwarz, Nele;
Nagel-Wolfrum, Kerstin;
Wolfrum, Uwe;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1556, doi. 10.1093/hmg/ddp067

By:

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

Publication type:

Article

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 19, p. 3043, doi. 10.1093/hmg/ddn202

By:

Mendes, Hugo F.;
Cheetham, Michael E.

Publication type:

Article

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065

By:

Grayson, Celene;
Bartolini, Francesca;
Chapple, J. Paul;
Willison, Keith R.;
Bhamidipati, Arunashree;
Lewis, Sally A.;
Luthert, Philip J.;
Hardcastle, Alison J.;
Cowan, Nicholas J.;
Cheetham, Michael E.

Publication type:

Article

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823

By:

Spuy, Jacqueline van der;
Chapple, J. Paul;
Clark, Brian J.;
Luthert, Philip J.;
Sethi, Charanjit S.;
Cheetham, Michael E.

Publication type:

Article

Treatment with extracellular HSP70/HSC70 protein can reduce polyglutamine toxicity and aggregation.

Published in:

Journal of Neurochemistry, 2005, v. 94, n. 3, p. 597, doi. 10.1111/j.1471-4159.2005.03119.x

By:

Novoselova, Tatiana V.;
Margulis, Boris A.;
Novoselov, Sergey S.;
Sapozhnikov, Alexander M.;
van der Spuy, Jacqueline;
Cheetham, Michael E.;
Guzhova, Irina V.

Publication type:

Article

955. Utilising Viral Gene Transfer to Model Polyglutamine Diseases and Study the Effects of Heat Shock Proteins

Published in:

2005

By:

Howarth, Joanna L.;
Kelly, Stephen;
Glover, Colin P.J.;
Cheetham, Michael E.;
Bienemann, Alison S.;
Heywood, Darren J.;
Hobson, Russell J.;
Gallo, Jean-Marc;
Uney, James B.

Publication type:

Abstract

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

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

Chaperoning against neuronal vulnerability (Commentary on Zijlstra et al.).

Published in:

European Journal of Neuroscience, 2010, v. 32, n. 5, p. 759, doi. 10.1111/j.1460-9568.2010.07388.x

By:

Cheetham, Michael E.

Publication type:

Article

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

A simple cell based assay to measure Parkin activity.

Published in:

Journal of Neurochemistry, 2011, v. 116, n. 3, p. 342, doi. 10.1111/j.1471-4159.2010.07113.x

By:

Morrison, Ewan;
Thompson, John;
Williamson, Sally J. M.;
Cheetham, Michael E.;
Robinson, Philip A.

Publication type:

Article

Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1<sup>G93A</sup> mouse model of ALS.

Published in:

Journal of Neurochemistry, 2008, v. 107, n. 2, p. 339, doi. 10.1111/j.1471-4159.2008.05595.x

By:

Kalmar, Bernadett;
Novoselov, Sergey;
Gray, Anna;
Cheetham, Michael E.;
Margulis, Boris;
Greensmith, Linda

Publication type:

Article

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