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Page 1
Formation of I2+III2 supercomplex rescues respiratory chain defects.
Liang C, Padavannil A, Zhang S, Beh S, Robinson DRL, Meisterknecht J, Cabrera-Orefice A, Koves TR, Watanabe C, Watanabe M, Illescas M, Lim R, Johnson JM, Ren S, Wu YJ, Kappei D, Ghelli AM, Funai K, Osaka H, Muoio D, Ugalde C, Wittig I, Stroud DA, Letts JA, Ho L. Liang C, et al. Among authors: robinson drl. Cell Metab. 2025 Feb 4;37(2):441-459.e11. doi: 10.1016/j.cmet.2024.11.011. Epub 2025 Jan 8. Cell Metab. 2025. PMID: 39788125
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA. Hock DH, et al. Among authors: robinson drl. Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z. Genome Med. 2025. PMID: 40400026 Free PMC article.