| Cell survival during complete nutrient deprivation depends on lipid droplet-fueled β-oxidation of fatty acids AG Cabodevilla, L Sánchez-Caballero, E Nintou, VG Boiadjieva, ... Journal of Biological Chemistry 288 (39), 27777-27788, 2013 | 173 | 2013 |
| Unraveling the complexity of mitochondrial complex I assembly: A dynamic process L Sánchez-Caballero, S Guerrero-Castillo, L Nijtmans Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (7), 980-990, 2016 | 143 | 2016 |
| NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect F Baertling, L Sanchez‐Caballero, MAM van den Brand, CW Fung, ... Clinical genetics 93 (1), 111-118, 2018 | 56 | 2018 |
| Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency L Sánchez-Caballero, B Ruzzenente, L Bianchi, Z Assouline, G Barcia, ... The American Journal of Human Genetics 99 (1), 208-216, 2016 | 55 | 2016 |
| TMEM70 functions in the assembly of complexes I and V L Sánchez-Caballero, DM Elurbe, F Baertling, S Guerrero-Castillo, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1861 (8), 148202, 2020 | 47 | 2020 |
| Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive F Baertling, F Al‐Murshedi, L Sánchez‐Caballero, K Al‐Senaidi, NP Joshi, ... Human mutation 38 (6), 692-703, 2017 | 47 | 2017 |
| NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect F Baertling, L Sánchez-Caballero, MAM Van Den Brand, LT Wintjes, ... European Journal of Human Genetics 25 (11), 1273-1277, 2017 | 40 | 2017 |
| Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome F Baertling, L Sánchez-Caballero, S Timal, MAM van den Brand, LH Ngu, ... Molecular Genetics and Metabolism 120 (3), 243-246, 2017 | 32 | 2017 |
| A heterozygous NDUFV1 variant aggravates mitochondrial complex I deficiency in a family with a homoplasmic ND1 variant F Baertling, L Sánchez-Caballero, MAM van den Brand, F Distelmaier, ... The Journal of Pediatrics 196, 309-313. e3, 2018 | 15 | 2018 |
| C6orf203 controls OXPHOS function through modulation of mitochondrial protein biosynthesis S Palacios-Zambrano, L Vázquez-Fonseca, C González-Páramos, ... bioRxiv, 704403, 2019 | 1 | 2019 |
| A dual function of TMEM70 in OXPHOS: assembly of complexes I and V L Sánchez-Caballero, DM Elurbe, F Baertling, S Guerrero-Castillo, ... bioRxiv, 697185, 2019 | 1 | 2019 |
| Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease L Sánchez-Caballero, F Baertling, L Nijtmans, JAM Smeitink eLS, 1-9, 0 | | |
Richard RodenburgClinical Laboratory Geneticist在 radboudumc.nl 的电子邮件经过验证
