Page 129 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
ana riVera-Barahona equal contriButor, rocío sáncheZ-alcudia equal contriButor, hiu man Viecel- li, Veronique rüFenacht, Belén PéreZ, magdalena ugarte, Johannes häBerle, Beat thönY, lourdes ruiZ desViat. Functional Characterization of the spf/ash Splic- ing Variation in OTC Deficiency of Mice and Man. PLOS ONE(2015) 10(4).
Yuste-checa P, gámeZ a, Brasil s, desViat lr, ugarte m, PéreZ-cerdá c, PéreZ B. The Effects of PMM2-CDG-Caus-
alternative therapy for MPS II. Biochimica et Biophysica Acta(2015) 1852(12):2712-2721.
mercedes serrano, Víctor de diego, Jordi muchart, daniel cuadras, ana FeliPe, alFons macaYa ramón VeláZqueZ, m. Pilar Poo1, carmen Fons, m. mar o’cal- laghan, angels garcía-caZorla, cristina Boix, Berna- Bé roBles, Francisco carratalá, marisa girós, PaZ Bri- ones, laura gort, raFael artuch, celia PéreZ-cerdá, JaaK JaeKen, Belén PéreZ, Belén PéreZ-dueñas. Phos-
ing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. Human Mutation(2015) 36(9):851-860.
iliana matos, Vânia gonçalVes, eugénia Pinto, Fran- cisco laranJeira, maria João Prata, Peter Jordan, lourdes r.desViat, Belén PéreZ, sandra alVes. Func- tional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an
Highlights
The Centre for Diagnosis and Research of inherited metabolic diseases is focused on two challenges in the context of Precision Medicine in rare diseases: improve the diagnosis of inherited metabolic dis- orders and development of new mutation-specific therapies. Regarding the biochemical diagnosis we have implemented the detection of new biomarkers in physiological fluids and a number of enzymatic activities in plasma and patient-derived fibroblasts. At the genetic level we have continued with the im- plementation of massive parallel sequencing as a tool for confirmation of metabolic disorders detect- ed in newborn screening and for differential diag- nosis of genetic heterogeneous diseases, such as peroxisomal disorders, glycogen storage disease, mitochondrial disorders or congenital defects of glycosylation. The group has also participated, at national and international level, in the development of guidelines and recommendations for improving neonatal screening program for homocistinurias and methylmalonic aciduria in the context of the “Newborn screening working group” belonging to the European project E-HOD: European Network
phomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. Orphanet J Rare Dis. 2015 Oct 26;10:138.
Yuste-checa P, medrano c, gámeZ a, desViat lr, matthi- Js g, ugarte m, PéreZ-cerdá c, PéreZ B. Antisense-Me- diated Therapeutic Pseudoexon Skipping In TMEM165- CDG. Clin Genet. 2015 Jan;87(1):42-8.
and Registry for Homocystinurias and Methylation Disorders (Head leader Prof H Blom). The group has participated in the evaluation of effectiveness of screening for biotinidase and has participated mak- ing a clinical, biochemical and genetic diagnostic protocol for congenital disorders of glycosylation. Concerning the research on mutation specific thera- pies, we highlight the successful functional analysis by cell-based assays to study exonic and intronic splicing and missense mutations in several inher- ited metabolic disorders. Two new projects have been granted: “Understanding, prediction and vali- dation of the phenotype of pathological mutations: transforming the basic results in diagnostic tools” (BIO2014-57314-REDT) and “Genomic and tran- scriptomic analysis to identify splicing defects and in vivo evaluation of antisense therapy” (Fundación Ramón Areces). We have also signed an agreement entitled “The genotypic spectrum of classic nonke- totic hyperglycinemia” with the Children’s Hospital Colorado, University of Colorado.
Institution: Universidad Autónoma de Madrid · Contact: Centro de Biología Molecular Severo Ochoa Nicolás Cabrera, 1. Campus de Cantoblanco UAM. 28049 MADRID · Tel.: 91497 45 89 / 91 196 45 66 E.mail: [email protected]
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