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Most relevant scientific articles
• tort F, Ferrer-cortès x, tHió m, naVarro-sastre a, matalonGa l, quintana e, et al . Mutations in the li- poyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes . Hum Mol Genet . 2014; 23(7):1907-15 .
• mayr Ja, FeicHtinGer rG, tort F, ribes a, sperl W . Lipoic acid biosynthesis defects . J Inherit Metab Dis . 2014; 37(4): 553-63 .
• cañueto J, Girós m, González-sarmiento r . The role of the abnormalities in the distal pathway of cho- lesterol biosynthesis in the Conradi-Hünermann-Happle syndrome . Biochim Biophys Acta . 2014; 1841(3): 336-44 .
• buJán n, arias a, montero r, García-Villoria J, lissens W, seneca s, et al . Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency . J Inherit Metab Dis . 2014; 37(1): 53-62 .
• matalonGa l, arias a, coll mJ, Garcia-Villoria J, Gort l, ribes a . Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease . J Inherit Metab Dis . 2014; 37(3): 439-46 .
Highlights
In 2011 our group identified a new gene, NFU1, in humans . Thanks to this finding the knowledge of the metabolic pathway of lipoic acid biosynthesis in humans started to grow . Using the biochemical stratification proposed in previous study and thanks to the previous knowledge in yeast, our group identified mutations in another new gene in this metabolic pathway, LIPT1, in 2014 . In addition we would like to remark that the modification of this metabolic pathway, thanks to our work, has been accepted by the scientific community and we have been invited recently to participate in a review about the defects in the biosynthesis of lipoc acid (JIMD 2014, 37:553-563) .
On the other hand, we have identified new disease-causing genes through exome sequencing or other NGS strategies . It is remarkable the study of families with 3-methylglutaconic aciduria . Among them we have found a family with mutations in a candidate gene, of which there is still no evidence in the literature that associates it to human disease . Moreover, also in this large subgroup, we identified mutations in other genes associated with disease (DNAJC19, TMEM70, ATP12, SERAC1, ECHS1, NDUFAF4, NADK2) . We have identified mutations in another gene associated with disorders of protein glycosylation and complex V deficiency, yet not associated with human pathology and in which we are conducting functional studies . These works are pendent of imminent publication .
Concerning therapies, we have found a compound that could potentially act as a pharmacological chaperone for glutaric aciduria type I . In the study of treatments for lysosomal diseases we found a compound capable of inducing exocytosis . This compound is currently patented and licensed in collaboration with the company BCN-peptides .
Current projects in 2014: 2 projects FIS; 1 DG-SANCO; 1 AGAUR Autonomous Community, 1 Project CNAG and 1 non-competitive project BIOMARIN .
Institution: Hospital Clínico y Provincial de Barcelona Contact: Instituto de Bioquímica Clínica . Mejía Lequerica, s/n Edificio Helios III, planta baja . 08028 Barcelona · Phone: (+34) 93 227 93 40 / 93 227 56 72
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