Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSIT

por Nicol, Thomas, Falcone, Sara, Blease, Andrew, Vikhe, Pratik, Civiletto, Gabriele, Omairi, Saleh Salman, Viscomi, Carlo, Patel, Ketan, Potter, Paul K
Publicado 2023

OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling

por Gluck, Anna K, Stevenson, Mark, Falcone, Sara, Inoue, Asuka, Breitwieser, Gerda E, Gorvin, Caroline M, Lines, Kate E, Thakker, Rajesh V
Publicado 2020

A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background

por Falcone, Sara, Nicol, Thomas, Blease, Andrew, Randles, Michael J., Angus, Elizabeth, Page, Anton, Tam, Frederick W.K., Pusey, Charles D., Lennon, Rachel, Potter, Paul K.
Publicado 2022

Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background

por Falcone, Sara, Wisby, Laura, Nicol, Thomas, Blease, Andrew, Starbuck, Becky, Parker, Andrew, Sanderson, Jeremy, Brown, Steve D. M., Scudamore, Cheryl L., Pusey, Charles D., Tam, Frederick W. K., Potter, Paul K.
Publicado 2019

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation

por Khalil, Youssef, Carrino, Sara, Lin, Fujun, Ferlin, Anna, Lad, Heena V., Mazzacuva, Francesca, Falcone, Sara, Rivers, Natalie, Banks, Gareth, Concas, Danilo, Aguilar, Carlos, Haynes, Andrew R., Blease, Andy, Nicol, Thomas, Al-Shawi, Raya, Heywood, Wendy, Potter, Paul, Mills, Kevin, Gale, Daniel P., Clayton, Peter T.
Publicado 2022

Chronically elevated branched chain amino acid levels are pro-arrhythmic

por Portero, Vincent, Nicol, Thomas, Podliesna, Svitlana, Marchal, Gerard A, Baartscheer, Antonius, Casini, Simona, Tadros, Rafik, Treur, Jorien L, Tanck, Michael W T, Cox, I Jane, Probert, Fay, Hough, Tertius A, Falcone, Sara, Beekman, Leander, Müller-Nurasyid, Martina, Kastenmüller, Gabi, Gieger, Christian, Peters, Annette, Kääb, Stefan, Sinner, Moritz F, Blease, Andrew, Verkerk, Arie O, Bezzina, Connie R, Potter, Paul K, Remme, Carol Ann
Publicado 2021

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

por Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A, Bentley, Liz, Christie, Paul T, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Cox, Roger D, Brown, Matthew A, Huebner, Norbert, Brown, Steve D, Thakker, Rajesh V
Publicado 2019

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

por Potter, Paul K., Bowl, Michael R., Jeyarajan, Prashanthini, Wisby, Laura, Blease, Andrew, Goldsworthy, Michelle E., Simon, Michelle M., Greenaway, Simon, Michel, Vincent, Barnard, Alun, Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Harris, Shelley, Haynes, Andy, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena V., Law, Gemma, MacLaren, Robert E., Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Starbuck, Becky, Stelma, Femke, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Jackson, Ian J., Peirson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, El-Amraoui, Aziz, Petit, Christine, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Brown, Steve D. M.
Publicado 2016