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Most relevant scientific articles
• truJillano D*, perez b*, González J, tornaDor c, naVarrete r, escaramis G, ossoWsKi s, armenGol l, corneJo V, DesViat lr, uGarte m, estiVill x. Accurate molecular diagnosis of phenylketonuria and tetrahydro- biopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing . European Journal of Human Genetics (2014) 22(4):528-34 . * These authors contributed equally to this work .
• García-cazorla a, oyarzabal a, Fort J, robles c, casteJón e, ruiz-sala p, boDoy s, merinero b, lopez-sala a, Dopazo J, nunes V, uGarte m, artucH r, palacín m, roDríGuez-pombo p . Hum Mutat . 2014 35(4):470-7 .
• yuste p, meDrano c, Gamez a, DesViat lr,, mattHiJs G, uGarte m, pérez-cerDá c, pérez . Antisense Mediated Therapeutic Pseudoexon Skipping In TMEM165-CDG . . Clinical Genetics (2014)
• GalleGo-Villar l, Viecelli Hm, pérez b, HarDinG co, uGarte m, tHöny b, DesViat lr . A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver . Mol Ther Nucleic Acids . 2014 Sep 16 .
• alcaiDe p, KriJt J, ruiz-sala p, Ješina p, uGarte m, KozicH V, merinero b. Enzymatic diagnosis of homo- cystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS . Clinica Chimica Acta(2014)
Highlights
Institution: Universidad Autónoma de Madrid Contact: Centro de Biología Molecular . Univ . Autónoma de Madrid · C/ Nicolás Cabrera, 1 . Campus de Cantoblanco · Tel .: (+34) 91 497 45 89 / 91 196 45 96 · E .mail: bperez@cbm .csic .es
The research projects of the Diagnostic and Research of Inherited Metabolic diseases (IMD) are aimed at improving the diagnosis and to the development of therapeutic strategies based on the analysis of the mechanisms of action of the mutations identified in patients . During this year we have incorporated new biomarkers analized in physiological fluids and new enzymatic activities assays in order to improve the diagnosis and patient stratification for future genetic studies . At the genetic level we have implemented routinely massive parallel sequencing as a diagnostic tool in IMD . In particular we highlight the incorporation of genetic analysis of hyperphenylalaninemias (HPA) . We have developed a gene panel for analyzing the four genes that cause HPA generating a proof of concept that certifies the diagnostic utility of the complete capture of candidate genes for detection of complete mutational spectrum including nucleotide changes and copy number variations . We also highlight the first identification of new genes . We have identified and functional characterized for first time mutations in the gene BCKDK in two autistic patients . We have reported the successfully nutritional therapy . Regarding therapies we have reported the characterization of mitochondrial dysfunction in organic acidurias as novel therapeutic target . The results have revealed that oxidative damage may produce an alteration in the morphology of mitochondria and mitochondrial respiration . Concerning the mutation specific therapies we highlight the successful application of antisense therapy for exonic and intronic rescue of splicing motions hat affect splicing and in vivo analysis of the effectiveness of treatment in a murine model of PKU .
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