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Human Molecular Genetics|June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairmentRuth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.Plos Genetics|January 10, 2013
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammalsAnna Wredenberg, Marie Lagouge, Ana Bratic, et al.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.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.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.Pageof 5