3D Co-culture of hiPSC-Derived Cardiomyocytes With Cardiac Fibroblasts Improves Tissue-Like Features of Cardiac Spheroids von Beauchamp, Philippe, Jackson, Christopher B., Ozhathil, Lijo Cherian, Agarkova, Irina, Galindo, Cristi L., Sawyer, Douglas B., Suter, Thomas M., Zuppinger, Christian

Volltext

The roles of assembly factors in mammalian mitoribosome biogenesis von Hilander, Taru, Jackson, Christopher B., Robciuc, Marius, Bashir, Tanzeela, Zhao, Hongxia

Volltext

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy von Ignatenko, Olesia, Chilov, Dmitri, Paetau, Ilse, de Miguel, Elena, Jackson, Christopher B., Capin, Gabrielle, Paetau, Anders, Terzioglu, Mugen, Euro, Liliya, Suomalainen, Anu

Volltext

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome von Courage, Carolina, Jackson, Christopher B., Owczarek‐Lipska, Marta, Jamsheer, Aleksander, Sowińska‐Seidler, Anna, Piotrowicz, Małgorzata, Jakubowski, Lucjusz, Dallèves, Fanny, Riesch, Erik, Neidhardt, John, Lemke, Johannes R.

Volltext

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation von Hilander, Taru, Awadhpersad, Ryan, Monteuuis, Geoffray, Broda, Krystyna L., Pohjanpelto, Max, Pyman, Elizabeth, Singh, Sachin Kumar, Nyman, Tuula A., Crevel, Isabelle, Taylor, Robert W., Saada, Ann, Balboa, Diego, Battersby, Brendan J., Jackson, Christopher B., Carroll, Christopher J.

Volltext

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions von Forsström, Saara, Jackson, Christopher B., Carroll, Christopher J., Kuronen, Mervi, Pirinen, Eija, Pradhan, Swagat, Marmyleva, Anastasiia, Auranen, Mari, Kleine, Iida-Marja, Khan, Nahid A., Roivainen, Anne, Marjamäki, Päivi, Liljenbäck, Heidi, Wang, Liya, Battersby, Brendan J., Richter, Uwe, Velagapudi, Vidya, Nikkanen, Joni, Euro, Liliya, Suomalainen, Anu

Volltext

GTPBP8 is required for mitoribosomal biogenesis and mitochondrial translation von Wang, Liang, Hilander, Taru, Liu, Xiaonan, Tsang, Hoi Ying, Eriksson, Ove, Jackson, Christopher B., Varjosalo, Markku, Zhao, Hongxia

Volltext

Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis von Ng, Kah Ying, Richter, Uwe, Jackson, Christopher B, Seneca, Sara, Battersby, Brendan J

Volltext

High-Resolution Respirometry to assess Bioenergetics in Cells and Tissues using Chamber- and Plate-Based Respirometers von Awadhpersad, Ryan, Jackson, Christopher B.

Volltext

Temozolomide Sensitizes MGMT-Deficient Tumor Cells to ATR Inhibitors von Jackson, Christopher B, Noorbakhsh, Seth I, Sundaram, Ranjini K, Kalathil, Aravind N, Ganesa, Sachita, Jia, Lanqi, Breslin, Hank, Burgenske, Danielle M, Gilad, Oren, Sarkaria, Jann N, Bindra, Ranjit S

Volltext

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes von Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina

Volltext

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome von Schaller, André, Hahn, Dagmar, Jackson, Christopher B, Kern, Ilse, Chardot, Christophe, Belli, Dominique C, Gallati, Sabina, Nuoffer, Jean-Marc

Volltext

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth von Isohanni, Pirjo, Carroll, Christopher J., Jackson, Christopher B., Pohjanpelto, Max, Lönnqvist, Tuula, Suomalainen, Anu

Volltext

qPCR-based mitochondrial DNA quantification: Influence of template DNA fragmentation on accuracy von Jackson, Christopher B., Gallati, Sabina, Schaller, André

Volltext

Foundational Segmentation Models and Clinical Data Mining Enable Accurate Computer Vision for Lung Cancer von Swinburne, Nathaniel C., Jackson, Christopher B., Pagano, Andrew M., Stember, Joseph N., Schefflein, Javin, Marinelli, Brett, Panyam, Prashanth Kumar, Autz, Arthur, Chopra, Mohapar S., Holodny, Andrei I., Ginsberg, Michelle S.

Volltext

Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’ von Isohanni, Pirjo, Carroll, Christopher J., Jackson, Christopher B., Pohjanpelto, Max, Lönnqvist, Tuula, Suomalainen, Anu

Volltext

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype von Jackson, Christopher B, Neuwirth, Christoph, Hahn, Dagmar, Nuoffer, J-M, Frank, Stephan, Gallati, Sabina, Schaller, André

Volltext

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement von Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

Volltext

Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template von VON KANEL, Thomas, GERBER, Dominik, SCHALLER, André, BAUMER, Alessandra, WEY, Eva, JACKSON, Christopher B, GISLER, Franziska M, HEINIMANN, Karl, GALLATI, Sabina

Volltext

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy von Jackson, Christopher B, Hahn, Dagmar, Schröter, Barbara, Richter, Uwe, Battersby, Brendan J, Schmitt-Mechelke, Thomas, Marttinen, Paula, Nuoffer, Jean-Marc, Schaller, André

Volltext