Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

Ng, K. Y., Richter, U., Jackson, C. B., Seneca, S. & Battersby, B. J., 15 Apr 2022, In: Human Molecular Genetics. 31, 8, p. 1230-1241 12 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis

Daura, E., Tegelberg, S., Yoshihara, M., Jackson, C., Simonetti, F., Aksentjeff, K., Ezer, S., Hakala, P., Katayama, S., Kere, J., Lehesjoki, A-E. & Joensuu, T., Aug 2021, In: Neurobiology of Disease. 156, 13 p., 105418.

Research output: Contribution to journal › Article › Scientific › peer-review

High-Resolution Respirometry to assess Bioenergetics in Cells and Tissues using Chamber- and Plate-Based Respirometers

Awadhpersad, R. & Jackson, C. B., Oct 2021, In: Journal of Visualized Experiments. 176, 27 p., 63000.

Research output: Contribution to journal › Article › Scientific › peer-review

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Hytönen, M. K., Sarviaho, R., Jackson, C. B., Syrjä, P., Jokinen, T., Matiasek, K., Rosati, M., Dallabona, C., Baruffini, E., Quintero, I., Arumilli, M., Monteuuis, G., Donner, J., Anttila, M., Suomalainen, A., Bindoff, L. A. & Lohi, H., 2021, In: Human Genetics. 140, p. 1593-1609 17 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Grabinska, K. A., Muona, M., Canafoglia, L., Gambardella, A., Said, E., Afawi, Z., Baykan, B., Brandt, C., di Bonaventura, C., Chew, H. B., Criscuolo, C., Dibbens, L. M., Castellotti, B., Riguzzi, P., Labate, A., Filla, A. & 19 others, Giallonardo, A. T., Berecki, G., Jackson, C. B., Joensuu, T., Damiano, J. A., Kivity, S., Korczyn, A., Palotie, A., Striano, P., Uccellini, D., Giuliano, L., Andermann, E., Scheffer, I. E., Michelucci, R., Bahlo, M., Franceschetti, S., Sessa, W. C., Berkovic, S. F. & Lehesjoki, A-E., 1 Apr 2021, In: American Journal of Human Genetics. 108, 4, p. 722-738 17 p.

Research output: Contribution to journal › Article › Scientific › peer-review