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Human Molecular Genetics|June 25, 2017
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndromeSanna Matilainen, Christopher J Carroll, Uwe Richter, et al.
Investigative Ophthalmology & Visual Science|May 30, 2015
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyPadmini P Polinati, Tanja Ilmarinen, Ras Trokovic, et al.
Scientific Reports|November 7, 2019
Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disordersHaruna Tani, Takayuki Mito, Vidya Velagapudi, et al.
Human Molecular Genetics|May 8, 2007
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley, Susan Adams, Abdelhamid Slama, et al.
Neuromuscular Disorders : NMD|August 22, 2024
Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD<sup>+</sup> deficiencyJuho Aaltio, Liliya Euro, Olli Tynninen, et al.
The Journal of Cell Biology|September 14, 2022
Mitochondrial dysfunction triggers actin polymerization necessary for rapid glycolytic activationRajarshi Chakrabarti, Tak Shun Fung, Taewook Kang, et al.
Cell Metabolism|January 14, 2022
Mosaic dysfunction of mitophagy in mitochondrial muscle diseaseTakayuki Mito, Amy E Vincent, Julie Faitg, et al.
EMBO Molecular Medicine|November 8, 2017
A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regionsJoni Nikkanen, Juan Cruz Landoni, Diego Balboa, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathyAnita Hiippala, Catalina Vasilescu, Jonna Tallila, et al.
Brain : a Journal of Neurology|September 30, 2008
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndromeAlexandra Götz, Pirjo Isohanni, Helena Pihko, et al.
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