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Nature Communications|December 20, 2023
Mtfp1 ablation enhances mitochondrial respiration and protects against hepatic steatosisCecilia Patitucci, Juan Diego Hernández-Camacho, Elodie Vimont, et al.
Molecular Biology of the Cell|January 21, 2021
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolismThomas D Jackson, Daniella H Hock, Kenji M Fujihara, et al.
Clinical Genetics|July 10, 2026
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome IntervalAngelo Condell, Elaine Zhang, Tim Sikora, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 25, 2022
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 moduleThomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, et al.
Mitochondrion|October 16, 2024
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosisRodrigo T Starosta, Austin A Larson, Naomi J L Meeks, et al.
The Journal of Experimental Medicine|July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain developmentNicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.
Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Cell Metabolism|October 5, 2022
Two independent respiratory chains adapt OXPHOS performance to glycolytic switchErika Fernández-Vizarra, Sandra López-Calcerrada, Ana Sierra-Magro, et al.
Molecular Cell|June 27, 2025
Microprotein SMIM26 drives oxidative metabolism via serine-responsive mitochondrial translationJiemin Nah, Sreya Mahendran, Baptiste Kerouanton, et al.
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