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American Journal of Human Genetics|October 4, 2011
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver functionMagnus K Bjursell, Henk J Blom, Jordi Asin Cayuela, et al.
Molecular Cell|January 2, 2018
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNAThomas J Nicholls, Cristina A Nadalutti, Elisa Motori, et al.
Nucleic Acids Research|August 10, 2022
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completionJelena Misic, Dusanka Milenkovic, Ali Al-Behadili, et al.
SLAS Discovery : Advancing Life Sciences R & D|August 23, 2025
Development of novel high-throughput biochemical competition assays to identify ligands of human asialoglycoprotein receptor 1Jianming Liu, Bradley Peter, Lauren Rhodes, et al.
Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.
Nature|September 24, 2025
Ribonucleotide incorporation into mitochondrial DNA drives inflammationAmir Bahat, Dusanka Milenkovic, Eileen Cors, et al.
Nature Communications|February 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological diseaseMonika Oláhová, Bradley Peter, Zsolt Szilagyi, et al.
Human Molecular Genetics|July 11, 2014
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expressionWilliam C Wilson, Hue-Tran Hornig-Do, Francesco Bruni, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 6, 2022
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective StudyMarco Percetti, Giulia Franco, Edoardo Monfrini, et al.
Science Advances|July 3, 2021
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replicationMin Jiang, Xie Xie, Xuefeng Zhu, et al.
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