Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

by Paulien Smits, Jan Smeitink, Lambert van den Heuvel
Published 2010-01-01

Sonlicromanol's active metabolite KH176m normalizes prostate cancer stem cell mPGES-1 overexpression and inhibits cancer spheroid growth.

by Xiaolan Jiang, Herma Renkema, Jan Smeitink, Julien Beyrath
Published 2021-01-01

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

by Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen, Jan Smeitink
Published 2017-05-01

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

by Rob Ramakers, Saskia Koene, Jan T. Groothuis, Paul de Laat, Mirian C. H. Janssen, Jan Smeitink
Published 2017-10-01

Fear of disease progression in carriers of the m.3243A > G mutation

by José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak
Published 2018-11-01

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

by Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink
Published 2017-10-01

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

by Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung
Published 2021-07-01

Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons

by Aurelie Schwartzentruber, Camilla Boschian, Fernanda Martins Lopes, Monika A. Myszczynska, Elizabeth J. New, Julien Beyrath, Jan Smeitink, Laura Ferraiuolo, Heather Mortiboys
Published 2020-09-01

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

by Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung
Published 2019-05-01

Exome sequencing in paediatric patients with movement disorders

by Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Published 2021-01-01