PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

by Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti, Dario Brunetti
Published 2023-07-01

Brain calcifications and PCDH12 variants.

by Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R, Ferreira, Joana, Moura, Denis, Sobrido, Maria J, Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H, Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W, Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João RM
Published 2017

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

by Langer, Yeshaya, Aran, Adi, Gulsuner, Suleyman, Abu Libdeh, Bassam, Renbaum, Paul, Brunetti, Dario, Teixeira, Pedro-Filipe, Walsh, Tom, Zeligson, Sharon, Ruotolo, Roberta, Beeri, Rachel, Dweikat, Imad, Shahrour, Maher, Weinberg-Shukron, Ariella, Zahdeh, Fouad, Baruffini, Enrico, Glaser, Elzbieta, King, Mary-Claire, Levy-Lahad, Ephrat, Zeviani, Massimo, Segel, Reeval
Published 2018

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

by Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John ME, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon JH, Morrogh, Deborah, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A
Published 2019