Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome

por Hock, Daniella H., Robinson, David R. L., Stroud, David A.
Publicado 2020

Transcriptomic investigation of wound healing and regeneration in the cnidarian Calliactis polypus

por Stewart, Zachary K., Pavasovic, Ana, Hock, Daniella H., Prentis, Peter J.
Publicado 2017

Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain

por Robinson, David R. L., Hock, Daniella H., Muellner-Wong, Linden, Kugapreethan, Roopasingam, Reljic, Boris, Surgenor, Elliot E., Rodrigues, Carlos H. M., Caruana, Nikeisha J., Stroud, David A.
Publicado 2022

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

por Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Hock, Daniella H., Kikhtyak, Zoya, Semcesen, Liana N., Morimoto, Atsushi, Lee, Sangmoon, Stroud, David A., Gleeson, Joseph G., Haan, Eric A., Gecz, Jozef
Publicado 2022

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

por Jackson, Thomas D., Hock, Daniella H., Fujihara, Kenji M., Palmer, Catherine S., Frazier, Ann E., Low, Yau C., Kang, Yilin, Ang, Ching-Seng, Clemons, Nicholas J., Thorburn, David R., Stroud, David A., Stojanovski, Diana
Publicado 2021

Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module

por Jackson, Thomas D., Crameri, Jordan J., Muellner-Wong, Linden, Frazier, Ann E., Palmer, Catherine S., Formosa, Luke E., Hock, Daniella H., Fujihara, Kenji M., Stait, Tegan, Sharpe, Alice J., Thorburn, David R., Ryan, Michael T., Stroud, David A., Stojanovski, Diana
Publicado 2022

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

por Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John
Publicado 2020

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

por Van Bergen, Nicole J., Hock, Daniella H., Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M., D’Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J., Thorburn, David R., Stroud, David A., White, Susan M., Christodoulou, John, Brown, Natasha J.
Publicado 2022

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

por Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.
Publicado 2023

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

por Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert D S, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H
Publicado 2022

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

por Van Haute, Lindsey, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J., Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R., Stroud, David A., Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, Horvath, Rita
Publicado 2023