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Science Advances|February 20, 2021
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clustersFlorian A Rosenberger, David Moore, Ilian Atanassov, 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.
JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, et al.
Biorxiv : the Preprint Server for Biology|May 4, 2026
MitoSAM-dependent lipoylation controls postnatal heart development via metabolic remodelingAnastasia Rumyantseva, Alissa Wilhalm, William Carter, et al.
JCI Insight|September 8, 2023
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutationsJingdian Zhang, Camilla Koolmeister, Jinming Han, et al.
American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Nature Communications|March 29, 2019
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsMontse Olivé, Martin Engvall, Gianina Ravenscroft, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
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