Search Results - "Cheetham, Michael E."

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy by Athanasiou, Dimitra, Aguila, Monica, Bellingham, James, Li, Wenwen, McCulley, Caroline, Reeves, Philip J., Cheetham, Michael E.

“…Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding condition, retinitis pigmentosa (RP). Over 150 different mutations in…”
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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups by 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.

“…Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic…”
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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect by Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.

“…Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber…”
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The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa by Athanasiou, Dimitra, Aguila, Monica, Bellingham, James, Kanuga, Naheed, Adamson, Peter, Cheetham, Michael E

“…Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited…”
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Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids by Lane, Amelia, Jovanovic, Katarina, Shortall, Ciara, Ottaviani, Daniele, Panes, Anna Brugulat, Schwarz, Nele, Guarascio, Rosellina, Hayes, Matthew J., Palfi, Arpad, Chadderton, Naomi, Farrar, G. Jane, Hardcastle, Alison J., Cheetham, Michael E.

“…RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism of RP2-associated retinal degeneration in humans is unclear, and…”
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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis by Chen, Han-Jou, Mitchell, Jacqueline C, Novoselov, Sergey, Miller, Jack, Nishimura, Agnes L, Scotter, Emma L, Vance, Caroline A, Cheetham, Michael E, Shaw, Christopher E

“…Detergent-resistant, ubiquitinated and hyperphosphorylated Tar DNA binding protein 43 (TDP-43, encoded by TARDBP) neuronal cytoplasmic inclusions are the…”
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The cell stress machinery and retinal degeneration by Athanasiou, Dimitra, Aguilà, Monica, Bevilacqua, Dalila, Novoselov, Sergey S., Parfitt, David A., Cheetham, Michael E.

“…Retinal degenerations are a group of clinically and genetically heterogeneous disorders characterised by progressive loss of vision due to neurodegeneration…”
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Guidelines for the Nomenclature of the Human Heat Shock Proteins by Kampinga, Harm H., Hageman, Jurre, Vos, Michel J., Kubota, Hiroshi, Tanguay, Robert M., Bruford, Elspeth A., Cheetham, Michael E., Chen, Bin, Hightower, Lawrence E.

“…The expanding number of members in the various human heat shock protein (HSP) families and the inconsistencies in their nomenclature have often led to…”
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Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1 by Meschede, Ingrid P., Ovenden, Nicholas C., Seabra, Miguel C., Futter, Clare E., Votruba, Marcela, Cheetham, Michael E., Burgoyne, Thomas

“…Mitochondria are known to play an essential role in photoreceptor function and survival that enables normal vision. Within photoreceptors, mitochondria are…”
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A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants by Piccolo, Davide, Zarouchlioti, Christina, Bellingham, James, Guarascio, Rosellina, Ziaka, Kalliopi, Molday, Robert S, Cheetham, Michael E

“…ABCA4-related retinopathy is the most common inherited Mendelian eye disorder worldwide, caused by biallelic variants in the ATP-binding cassette transporter…”
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Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa by Mendes, Hugo F., Cheetham, Michael E.

“…Mutations in the dim light photoreceptor protein rod opsin cause autosomal dominant retinitis pigmentosa. The majority of these mutations (class II) lead to…”
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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models by 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.

“…Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy associated with mutations in CEP290. The deep intronic c.2991+1655A>G…”
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Hsp90 as a Potential Therapeutic Target in Retinal Disease by Aguilà, Mònica, Cheetham, Michael E

“…The molecular chaperone heat shock protein 90 (Hsp90) is a pivotal cellular regulator involved in the folding, activation and assembly of a wide range of…”
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa by 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., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Arno, Gavin, Fiorentino, Alessia, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Cheetham, Michael E., Webster, Andrew R., van Heyningen, Veronica, 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

“…Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode…”
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Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity by Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.

“…Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and…”
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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins 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

“…Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is…”
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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4 by Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

“…In a large family of Czech origin, we mapped a locus for an autosomal-dominant corneal endothelial dystrophy, posterior polymorphous corneal dystrophy 4…”
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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells by Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, 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

“…Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are…”
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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease 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, Davidson, Alice E

“…Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans…”
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Suppression of protein aggregation by chaperone modification of high molecular weight complexes by LABBADIA, John, NOVOSELOV, Sergey S, BETT, John S, WEISS, Andreas, PAGANETTI, Paolo, BATES, Gillian P, CHEETHAM, Michael E

“…Protein misfolding and aggregation are associated with many neurodegenerative diseases, including Huntington's disease. The cellular machinery for maintaining…”
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