Objetivo Our ultimate goal is to develop new therapies for X-linked adrenoleukodystrophy (X-ALD), the most frequent inherited monogenie demyelinating disease of the central nervous system (1:18,000). X-ALD is characterised by extensive phenotypic variability, which is not correlated to ALD genotype, and leads to death in boys due to cerebral demyelination and to motor disability in adults due to spinal cord degeneration. Allogenic bone marrow transplantation, proven to be beneficial in X-ALD, can be applied only to a limited number of X-ALD patients. Thus, there is no treatment for the majority of patients, in particular those with the severe cerebral form of X-ALD and adults with adrenomyeloneuropathy (AMN). Understanding of the pathogenesis is necessary for the development of novel therapeutic strategies. The still unresolved transporter function of the ALD protein will be studied in reconstituted liposomes. To get further insight into the pathogenesis of X-ALD, we aim to identify genes and proteins that are differentially regulated in the target tissues of patients with cerebral ALD and AMN using Affymetrix analysis of differential mRNA expression and a proteomics approach based on MALDI-TOF mass spectrometry. Additional genome-wide approaches such as mapping of quantitative trait loci will be applied to identify modifier genes that may contribute to the phenotypic variability of X-ALD. We will generate new mouse models that represent a wider phenotypic spectrum of the disease for a more efficient evaluation of therapeutic strategies... Ámbito científico natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapymedical and health sciencesbasic medicinephysiologypathophysiologynatural sciencesbiological sciencesbiochemistrybiomoleculeslipidsmedical and health sciencesclinical medicinetransplantation Palabras clave molecular basis of disease mouse models novel theraputic approaches Programa(s) FP6-LIFESCIHEALTH - Life sciences, genomics and biotechnology for health: Thematic Priority 1 under the Focusing and Integrating Community Research programme 2002-2006. Tema(s) LSH-2002-2.1.3-7 - Rare monogenic neurological disorders Convocatoria de propuestas FP6-2002-LIFESCIHEALTH Consulte otros proyectos de esta convocatoria Régimen de financiación STREP - Specific Targeted Research Project Coordinador MEDIZINISCHE UNIVERSITÄT WIEN Aportación de la UE Sin datos Dirección SPITALGASSE 23 VIENNA Austria Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos Participantes (5) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE Francia Aportación de la UE Sin datos Dirección 101, rue de Tolbiac PARIS Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos INSTITUT DE RECERCA ONCOLÒGICA España Aportación de la UE Sin datos Dirección Gran Via s/n km 2,7 HOSPITALET DE LLOBREGAT Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos MAX-PLANCK-GESELLSCHAFT ZUR FÖRDERUNG DER WISSENSCHAFTEN E.V. Alemania Aportación de la UE Sin datos Dirección Hofgartenstrasse 8 MUNICH Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos ACADEMISCH ZIEKENHUIS BIJ DE UNIVERSITEIT VAN AMSTERDAM Países Bajos Aportación de la UE Sin datos Dirección Meibergdreef 9 22700 AMSTERDAM Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos CELLMED AG Alemania Aportación de la UE Sin datos Dirección Industriestrasse 19 ALZENAU Ver en el mapa Enlaces Sitio web Opens in new window Coste total Sin datos
