Page 79 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
canals i, soriano J, orlandi Jg, torrent r, richaud-Pa- tin Y, JiméneZ-delgado s, et al. Activity and High-Or- der Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem cell reports. 2015;5(4):546–57.
canals i, Benetó n, coZar m, Vilageliu l, grinBerg d. EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. Sci Rep. 2015;5:13654.
Zheng h, Forgetta V, hsu Y, estrada K, rosello-dieZ a, leo PJ, et al. Whole-genome sequencing identifies EN1
Highlights
Within the lysosomal diseases research line, an iPS- based neuronal model for Sanfilippo C diseases has been completed and a successful treatment on pa- tients’ fibroblasts using interference RNA has been performed. A project on the generation of an iPS-de- rived osteoblast model for Gaucher disease is nearly finished. Besides, mouse models bearing a pseudo- exon-generating splicing mutation, responsible for Niemann-Pick C disease have been generated and characterized.
Within the bone disease research line, the FLJ42280, WNT16, DKK1 and SOST genes, previously found to be involved in osteoporosis, have been resequenced. Functional studies for relevant variants have been started. We have participated in a multicentric study that identified EN1 as a novel osteoporosis related gene. Exome sequencing allowed the identification of mutations involved in atypical fractures in pa- tients treated with bisphosphonates. Finally, a miR- NA profile has been performed in normal and osteo- porotic bone.
as a determinant of bone density and fracture. Nature. 2015;526(7571):112–7.
FernàndeZ-castillo n, caBana-domíngueZ J, soriano J, sàncheZ-mora c, roncero c, grau-lóPeZ l, et al. Tran- scriptomic and genetic studies identify NFAT5 as a can- didate gene for cocaine dependence. Transl Psychiatry. 2015;5:e667.
toma c, torrico B, herVás a, salgado m, rueda i, Valdés-mas r, et al. Common and rare variants of mi- croRNA genes in autism spectrum disorders. World J Biol Psychiatry. 2015;1–11.
In the field of neurological diseases, large scale stud- ies have been performed to characterize the genetic landscape shared by and specific to different psy- chiatric disorders, including autism, ADHD, and drug dependence, focused on common and rare variants, including point mutations and CNVs. Additionally, transcriptomic studies in drug-abuse animal and cellular models have been performed.
Finally, a whole exome sequencing has been per- formed on Opitz C syndrome and Bohring-Opitz syn- drome patients. A mutation, very likely pathogenic, has been identified in the MAGEL2 gene in one pa- tient, and a mutation in the FOXP1 gene has been found in another patient. These two genes had not been previously associated with the disease. Addi- tionally, a mutation in the ASXL1 gene (in a Bohring- Opitz patient) and two mutations in the RYR1 gene (in two sibs re-diagnosed as congenital myopathy patients) have been found.
Institution: Universitat de Barcelona · Contact: Facultad de Biología. Diagonal, 643. 08028 Barcelona Tel.: 93 403 57 16 · E.mail: [email protected] · Web: http://www.ub.edu/genetica/humanaen/grup.htm
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