Page 111 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
ortigoZa-escoBar Jd, molero-luis m, arias a, oYarZa- Bal a, darín n, serrano m, garcía-caZorla a, tondo m, hernándeZ m, garcía-Villoria J, casado m, gort l, maYr Ja, rodrígueZ-PomBo P, riBes a, artuch r, PéreZ- dueñas B. Free-thiamine is a potential biomarker of thia- mine transporter-2 deficiency: a treatable cause of Leigh syndrome. Brain. 2016; 139:31-38. (D1 IF:9.19).
PaJares s, arias a, garcía-Villoria J, macías-Vidal J, ros e, de las heras J,girós m, coll mJ, riBes a. Choles- tane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. J Lipid Res. 2015 ;56:1926-1935. (Q1; IF:4.42).
matalonga l, arias á, tort F, Ferrer-cortés x, garcía-Villoria J, coll mJ, gort l, riBes a. Effect of Readthrough Treatment in Fibroblasts of Patients Affect-
Highlights
We have identified two new genes associated to dis- ease through exome sequencing. These genes are MRP63 associated to complex V of the mitocondri- al respiratory chain and, TRAPPC11associated to a glycosilation defect . We are now finishing the ex- pression studies.
Concerning the search for therapies, we have pat- ented and licensed a compound capable of inducing lysosomal exocytosis (WO 2015 / 097088A19).
We have found a biomarker (cholestane-3ß, 5a, 6ß-triol) for Niemann-Pick type C, Cerebrotendinous xanthomatosis and lysosomal acid lipase deficiency.
We have continued to make progress in the knowl- edge of the metabolic pathway of lipoic acid and other cofactors of mitochondrial energy metabo- lism (see publications 2015).
We have participated in the development of two clinical guidelines (mitochondrial beta-oxidation de- ficiencies and glutaric aciduria type I) promoted by the Spanish Association of Inborn Errors of Metab- olism.
ed by Lysosomal Diseases Caused by Premature Termina- tion Codons. Neurotherapeutics. 2015 ;12: 874-886. (D1; IF:5.05).
ZamPieri s, Filocamo m, Pianta a, lualdi s, gort l, coll mJ, sinnott r,geBerhiWot t, BemBi B, dardis a. SMPD1 Mutation Update: Database and Comprehensive Analy- sis of Published and Novel Variants. Hum Mutat. 2016; 37:139-147. (Q1; IF: 5.34).
Ferrer-cortès x, narBona J, BuJan n, matalonga l, del toro m, arranZ Ja,riudor e, garcía-caZorla a, Jou c, o’callaghan m, Pineda m, montero r, arias a, garcía-Villoria J, alston cl, taYlor rW, Briones P, riBes a, tort F. A leaky splicing mutation in NFU1 is as- sociated with a particular biochemical phenotype. Con- sequences for the diagnosis. Mitochondrion. 2015; 26:72- 80. (Q2, IF:3.3).
We participate in two FIS projects and in a project of excellence INTERCIBER and two intramural projects CIBERER and two European DG-SANCO projects, one for the study of Niemann Pick disease type C, type A and type B and another for the study of ho- mocistinurias. We also have an autonomous project (AGAUR).
At the level of collaboration with industry we have developed a project with Laboratorios Esteve SA, for the valuation of heparan sulfate in plasma, CSF and urine, as well as for the assessment of heparan sul- fatase CSF and leukocytes. At the end of 2015 we obtained the 15,189 accreditation for these determi- nations. That would be of great help to evaluate the efficay of gene therapy for Sanfilippo A disease.
Institution: Hospital Clínic de Barcelona · Contact: Instituto de Bioquímica Clínica
Mejía Lequerica, s/n · Edificio Helios III, planta baja. 08028 Barcelona · Tel.: 93 227 93 40 / 93 227 56 72
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