Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity CQE Lee, B Kerouanton, S Chothani, S Zhang, Y Chen, CK Mantri, ... Nature communications 12 (1), 2130, 2021 | 69 | 2021 |
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ... Med 2 (1), 49-73. e10, 2021 | 53 | 2021 |
HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV DH Hock, B Reljic, CS Ang, L Muellner-Wong, HS Mountford, ... Molecular & Cellular Proteomics 19 (7), 1145-1160, 2020 | 51 | 2020 |
Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome DH Hock, DRL Robinson, DA Stroud Biochemical Journal 477 (21), 4085-4132, 2020 | 46 | 2020 |
Transcriptomic investigation of wound healing and regeneration in the cnidarian Calliactis polypus ZK Stewart, A Pavasovic, DH Hock, PJ Prentis Scientific reports 7 (1), 41458, 2017 | 44 | 2017 |
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism TD Jackson, DH Hock, KM Fujihara, CS Palmer, AE Frazier, YC Low, ... Molecular Biology of the Cell 32 (6), 475-491, 2021 | 35* | 2021 |
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch E Fernandez-Vizarra, S Lopez-Calcerrada, A Sierra-Magro, ... Cell Metabolism 34 (11), 1792-1808. e6, 2022 | 31 | 2022 |
Mutations in the exocyst component EXOC2 cause severe defects in human brain development NJ Van Bergen, SM Ahmed, F Collins, M Cowley, A Vetro, RC Dale, ... Journal of Experimental Medicine 217 (10), e20192040, 2020 | 26 | 2020 |
Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I LE Formosa, B Reljic, AJ Sharpe, DH Hock, L Muellner-Wong, DA Stroud, ... Proceedings of the National Academy of Sciences 118 (17), e2019665118, 2021 | 24 | 2021 |
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 G Helman, AG Compton, DH Hock, M Walkiewicz, GR Brett, L Pais, ... Human mutation 42 (1), 19-24, 2021 | 24 | 2021 |
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module TD Jackson, JJ Crameri, L Muellner-Wong, AE Frazier, CS Palmer, ... Proceedings of the National Academy of Sciences 119 (13), e2115566119, 2022 | 18 | 2022 |
Premature ovarian insufficiency in CLPB deficiency: Transcriptomic, proteomic and phenotypic insights EJ Tucker, MJ Baker, DH Hock, JT Warren, S Jaillard, KM Bell, ... The Journal of Clinical Endocrinology & Metabolism 107 (12), 3328-3340, 2022 | 11 | 2022 |
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder R Kumar, MA Corbett, NJC Smith, DH Hock, Z Kikhtyak, LN Semcesen, ... NPJ Genomic Medicine 7 (1), 9, 2022 | 11 | 2022 |
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease L Van Haute, E O’connor, H Díaz-Maldonado, B Munro, K Polavarapu, ... Nature Communications 14 (1), 1009, 2023 | 10 | 2023 |
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease SSC Amarasekera, DH Hock, NJ Lake, SE Calvo, SW Grønborg, ... Human molecular genetics 32 (15), 2441-2454, 2023 | 9 | 2023 |
Applying sodium carbonate extraction mass spectrometry to investigate defects in the mitochondrial respiratory chain DRL Robinson, DH Hock, L Muellner-Wong, R Kugapreethan, B Reljic, ... Frontiers in Cell and Developmental Biology 10, 786268, 2022 | 8 | 2022 |
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency S Bakhshalizadeh, DH Hock, NA Siddall, BL Kline, R Sreenivasan, ... Human Genetics 142 (7), 879-907, 2023 | 6 | 2023 |
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function NJ Van Bergen, DH Hock, L Spencer, S Massey, T Stait, Z Stark, S Lunke, ... International journal of molecular sciences 23 (2), 986, 2022 | 4 | 2022 |
High foam phenotypic diversity and variability in flocculant gene observed for various yeast cell surfaces present as industrial contaminants CM de Figueiredo, DH Hock, D Trichez, MLB Magalhães, ML Lopes, ... Fermentation 7 (3), 127, 2021 | 4 | 2021 |
Mtfp1 ablation enhances mitochondrial respiration and protects against hepatic steatosis C Patitucci, JD Hernández-Camacho, E Vimont, S Yde, T Cokelaer, ... Nature Communications 14 (1), 8474, 2023 | 3 | 2023 |