LETM1 couples mitochondrial DNA metabolism and nutrient preference

por Durigon, Romina, Mitchell, Alice L, Jones, Aleck WE, Manole, Andreea, Mennuni, Mara, Hirst, Elizabeth MA, Houlden, Henry, Maragni, Giuseppe, Lattante, Serena, Doronzio, Paolo Niccolo’, Dalla Rosa, Ilaria, Zollino, Marcella, Holt, Ian J, Spinazzola, Antonella
Publicado 2018

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

por Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella
Publicado 2019

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

por Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine
Publicado 2022

Sulfated Progesterone Metabolites That Enhance Insulin Secretion via TRPM3 Are Reduced in Serum From Women With Gestational Diabetes Mellitus

por Fan, Hei Man, Mitchell, Alice L., Bellafante, Elena, McIlvride, Saraid, Primicheru, Laura I., Giorgi, Mirko, Eberini, Ivano, Syngelaki, Argyro, Lövgren-Sandblom, Anita, Jones, Peter, McCance, David, Sukumar, Nithya, Periyathambi, Nishanthi, Weldeselassie, Yonas, Hunt, Katharine F., Nicolaides, Kypros H., Andersson, David, Bevan, Stuart, Seed, Paul T., Bewick, Gavin A., Bowe, James E., Fraternali, Franca, Saravanan, Ponnusamy, Marschall, Hanns-Ulrich, Williamson, Catherine
Publicado 2022

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

por Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella
Publicado 2017