検索結果 - Boris Reljić
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Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I 著者: Luke E. Formosa, Linden Muellner-Wong, Boris Reljic, Alice J. Sharpe, Thomas D. Jackson, Traude H. Beilharz, Diana Stojanovski, Michael Lazarou, David A. Stroud, Michael T. Ryan
出版年 Cell Reports (2020-04-01)全文の入手
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2
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. 著者: Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn
出版年 PLoS Genetics (2013-01-01)全文の入手
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3
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases 著者: Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud
出版年 Genome Medicine (2025-05-01)全文の入手
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