The FASTK family proteins fine-tune mitochondrial RNA processing

por Ohkubo, Akira, Van Haute, Lindsey, Rudler, Danielle L., Stentenbach, Maike, Steiner, Florian A., Rackham, Oliver, Minczuk, Michal, Filipovska, Aleksandra, Martinou, Jean-Claude
Publicado 2021

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

por Lee, Richard G., Sedghi, Maryam, Salari, Mehri, Shearwood, Anne-Marie J., Stentenbach, Maike, Kariminejad, Ariana, Goullee, Hayley, Rackham, Oliver, Laing, Nigel G., Tajsharghi, Homa, Filipovska, Aleksandra
Publicado 2018

Multi‐omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer

por Stentenbach, Maike, Ermer, Judith A, Rudler, Danielle L, Perks, Kara L, Raven, Samuel A, Lee, Richard G, McCubbin, Tim, Marcellin, Esteban, Siira, Stefan J, Rackham, Oliver, Filipovska, Aleksandra
Publicado 2023

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

por Rossetti, Giulia, Ermer, Judith A., Stentenbach, Maike, Siira, Stefan J., Richman, Tara R., Milenkovic, Dusanka, Perks, Kara L., Hughes, Laetitia A., Jamieson, Emma, Xiafukaiti, Gulibaikelamu, Ward, Natalie C., Takahashi, Satoru, Gray, Nicola, Viola, Helena M., Hool, Livia C., Rackham, Oliver, Filipovska, Aleksandra
Publicado 2021

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

por Lee, Richard G, Balasubramaniam, Shanti, Stentenbach, Maike, Kralj, Tom, McCubbin, Tim, Padman, Benjamin, Smith, Janine, Riley, Lisa G, Priyadarshi, Archana, Peng, Liuyu, Nuske, Madison R, Webster, Richard, Peacock, Ken, Roberts, Philip, Stark, Zornitza, Lemire, Gabrielle, Ito, Yoko A, Boycott, Kym M, Geraghty, Michael T, van Klinken, Jan Bert, Ferdinandusse, Sacha, Zhou, Ying, Walsh, Rebecca, Marcellin, Esteban, Thorburn, David R, Rosciolli, Tony, Fletcher, Janice, Rackham, Oliver, Vaz, Frédéric M, Reid, Gavin E, Filipovska, Aleksandra
Publicado 2022