Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping

Authors: Zarouchlioti, Christina, Efthymiou, Stephanie, Facchini, Stefano, Dominik, Natalia, Bhattacharyya, Nihar, Liu, Siyin, Costa, Marcos Abreu, Szabo, Anita, Sadan, Amanda N., Jun, Albert S., Bugiardini, Enrico, Houlden, Henry, Cortese, Andrea, Skalicka, Pavlina, Dudakova, Lubica, Muthusamy, Kirithika, Cheetham, Michael E., Hardcastle, Alison J., Liskova, Petra, Tuft, Stephen J., Davidson, Alice E.

Source: In eBioMedicine October 2024 108

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

Authors: Liu, Siyin, Sadan, Amanda N., Muthusamy, Kirithika, Zarouchlioti, Christina, Jedlickova, Jana, Pontikos, Nikolas, Thaung, Caroline, Hardcastle, Alison J., Netukova, Magdalena, Skalicka, Pavlina, Dudakova, Lubica, Bunce, Catey, Tuft, Stephen J., Davidson, Alice E., Liskova, Petra

Source: Acta ophthalmologica. 101(6):679-686

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189252989.0x000001&indx=1&recIds=ETOCvdc_100189252989.0x000001

A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.

Authors: Piccolo, Davide¹ (AUTHOR) d.piccolo@ucl.ac.uk, Zarouchlioti, Christina¹ (AUTHOR) christina.zarouchlioti@ucl.ac.uk, Bellingham, James¹ (AUTHOR) rosellina.guarascio.13@ucl.ac.uk, Guarascio, Rosellina¹ (AUTHOR) kalliopi.ziaka.16@ucl.ac.uk, Ziaka, Kalliopi¹ (AUTHOR), Molday, Robert S.² (AUTHOR) rober.molday@ubc.ca, Cheetham, Michael E.¹ (AUTHOR) michael.cheetham@ucl.ac.uk

Source: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4521. 20p.

Subject Terms: *SMALL molecules, *PROTEIN folding, *MISSENSE mutation, *CELL membranes, *ATP-binding cassette transporters, *TRAFFIC monitoring, *RNA splicing, *BLOOD proteins

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

Authors: Bhattacharyya, Nihar¹, Chai, Niuzheng¹, Hafford-Tear, Nathaniel J.¹, Sadan, Amanda N.¹, Szabo, Anita¹, Zarouchlioti, Christina¹, Jedlickova, Jana², Leung, Szi Kay³, Liao, Tianyi¹, Dudakova, Lubica², Skalicka, Pavlina^2,4, Parekh, Mohit¹, Moghul, Ismail^1,5, Jeffries, Aaron R.³, Cheetham, Michael E.¹, Muthusamy, Kirithika⁵, Hardcastle, Alison J.^1,5, Pontikos, Nikolas^1,5, Liskova, Petra^2,4, Tuft, Stephen J.^1,5

Source: PLoS Genetics; 5/7/2024, Vol. 20 Issue 5, p1-27, 27p

Corticotropin Releasing Factor Receptors in breast cancer: Expression and activity in hormone-dependent growth in vitro

Authors: Koureta, Maria, Karaglani, Makrina, Panagopoulou, Maria, Balgkouranidou, Ioanna, Papadaki-Anastasopoulou, Artemis, Zarouchlioti, Christina, Dekavallas, Spyridon, Kolios, George, Lambropoulou, Maria, Baritaki, Stavroula, Chatzaki, Ekaterini ^*

Source: In Peptides July 2020 129

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Authors: Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.

Source: In Genetics in Medicine September 2019 21(9):2092-2102

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

Authors: 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.

Source: In The American Journal of Human Genetics 5 April 2018 102(4):528-539

DNAJ Proteins in neurodegeneration: essential and protective factors

Authors: Zarouchlioti, Christina, Parfitt, David A., Li, Wenwen, Gittings, Lauren M., Cheetham, Michael E.

Source: Philosophical Transactions: Biological Sciences, 2018 Jan . 373(1738), 1-14.

Access URL: https://www.jstor.org/stable/44679253

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1missense variant

Authors: Braddock, Freddie L., Gardner, Jessica C., Bhattacharyya, Nihar, Sanchez-Pintado, Beatriz, Costa, Marcos, Zarouchlioti, Christina, Szabo, Anita, Lišková, Petra, Cheetham, Michael E., Young, Robert D., Thaung, Caroline, Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-7, 7p

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4triplet repeat

Authors: Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.

Source: Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2092-2102, 11p

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