Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors

por Mäkinen, Netta, Kämpjärvi, Kati, Frizzell, Norma, Bützow, Ralf, Vahteristo, Pia
Publicado 2017

Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry

por Reyes, Carolina, Karamurzin, Yevgeniy, Frizzell, Norma, Garg, Karuna, Nonaka, Daisuke, Chen, Ying-Bei, Soslow, Robert A.
Publicado 2013

Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis, and Insulin Resistance

por Yang, Hao, Wu, Jiang W., Wang, Shu P., Severi, Ilenia, Sartini, Loris, Frizzell, Norma, Cinti, Saverio, Yang, Gongshe, Mitchell, Grant A.
Publicado 2016

Suppression of HIV and cocaine-induced neurotoxicity and inflammation by cell penetrable itaconate esters

por Cui, B. Celia, Aksenova, Marina, Sikirzhytskaya, Aliaksandra, Odhiambo, Diana, Korunova, Elizaveta, Sikirzhytski, Vitali, Ji, Hao, Altomare, Diego, Broude, Eugenia, Frizzell, Norma, Booze, Rosemarie, Wyatt, Michael D., Shtutman, Michael
Publicado 2023

IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas

por Cleven, Arjen H. G., Suijker, Johnny, Agrogiannis, Georgios, Briaire-de Bruijn, Inge H., Frizzell, Norma, Hoekstra, Attje S., Wijers-Koster, Pauline M., Cleton-Jansen, Anne-Marie, Bovée, Judith V. M. G.
Publicado 2017

Defective function of α-ketoglutarate dehydrogenase exacerbates mitochondrial ATP deficits during complex I deficiency

por Piroli, Gerardo G., Manuel, Allison M., McCain, Richard S., Smith, Holland H., Ozohanics, Oliver, Mellid, Sara, Cox, J. Hunter, Cotham, William E., Walla, Michael D., Cascón, Alberto, Ambrus, Attila, Frizzell, Norma
Publicado 2023

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas

por Kämpjärvi, Kati, Mäkinen, Netta, Mehine, Miika, Välipakka, Salla, Uimari, Outi, Pitkänen, Esa, Heinonen, Hanna-Riikka, Heikkinen, Tuomas, Tolvanen, Jaana, Ahtikoski, Anne, Frizzell, Norma, Sarvilinna, Nanna, Sjöberg, Jari, Bützow, Ralf, Aaltonen, Lauri A, Vahteristo, Pia
Publicado 2016

Inhibition of Mitochondrial Aconitase by Succination in Fumarate Hydratase Deficiency

por Ternette, Nicola, Yang, Ming, Laroyia, Mahima, Kitagawa, Mitsuhiro, O’Flaherty, Linda, Wolhulter, Kathryn, Igarashi, Kaori, Saito, Kaori, Kato, Keiko, Fischer, Roman, Berquand, Alexandre, Kessler, Benedikt M., Lappin, Terry, Frizzell, Norma, Soga, Tomoyoshi, Adam, Julie, Pollard, Patrick J.
Publicado 2013

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors

por Hoekstra, Attje S., de Graaff, Marieke A., Briaire-de Bruijn, Inge H., Ras, Cor, Seifar, Reza Maleki, van Minderhout, Ivonne, Cornelisse, Cees J., Hogendoorn, Pancras C.W., Breuning, Martijn H., Suijker, Johnny, Korpershoek, Esther, Kunst, Henricus P.M., Frizzell, Norma, Devilee, Peter, Bayley, Jean-Pierre, Bovée, Judith V.M.G.
Publicado 2015

A chemoproteomic portrait of the oncometabolite fumarate

por Kulkarni, Rhushikesh A., Bak, Daniel W., Wei, Darmood, Bergholtz, Sarah E., Briney, Chloe A., Shrimp, Jonathan H., Alpsoy, Aktan, Thorpe, Abigail L., Bavari, Arissa E., Crooks, Daniel R., Levy, Michaella, Florens, Laurence, Washburn, Michael P., Frizzell, Norma, Dykhuizen, Emily C., Weerapana, Eranthie, Linehan, W. Marston, Meier, Jordan L.
Publicado 2019

Renal Cyst Formation in Fh1-Deficient Mice Is Independent of the Hif/Phd Pathway: Roles for Fumarate in KEAP1 Succination and Nrf2 Signaling

por Adam, Julie, Hatipoglu, Emine, O'Flaherty, Linda, Ternette, Nicola, Sahgal, Natasha, Lockstone, Helen, Baban, Dilair, Nye, Emma, Stamp, Gordon W., Wolhuter, Kathryn, Stevens, Marcus, Fischer, Roman, Carmeliet, Peter, Maxwell, Patrick H., Pugh, Chris W., Frizzell, Norma, Soga, Tomoyoshi, Kessler, Benedikt M., El-Bahrawy, Mona, Ratcliffe, Peter J., Pollard, Patrick J.
Publicado 2011

Fumarate Hydratase Deletion in Pancreatic β Cells Leads to Progressive Diabetes

por Adam, Julie, Ramracheya, Reshma, Chibalina, Margarita V., Ternette, Nicola, Hamilton, Alexander, Tarasov, Andrei I., Zhang, Quan, Rebelato, Eduardo, Rorsman, Nils J.G., Martín-del-Río, Rafael, Lewis, Amy, Özkan, Gizem, Do, Hyun Woong, Spégel, Peter, Saitoh, Kaori, Kato, Keiko, Igarashi, Kaori, Kessler, Benedikt M., Pugh, Christopher W., Tamarit-Rodriguez, Jorge, Mulder, Hindrik, Clark, Anne, Frizzell, Norma, Soga, Tomoyoshi, Ashcroft, Frances M., Silver, Andrew, Pollard, Patrick J., Rorsman, Patrik
Publicado 2017