@article{Cabana-Dominguez2018, author = {Cabana-Dominguez, Judit and Shivalikanjli, Anu and Fernandez-Castillo, Noelia and Cormand, Bru}, doi = {10.1016/j.pnpbp.2019.109667}, journal = {Progress in Neuro-Psychopharmacology and Biological Psychiatry}, month = {jul}, pages = {109667}, title = {Genome-wide association meta-analysis of cocaine dependence: shared genetics with comorbid conditions}, url = {https://oadoi.org/10.1016/j.pnpbp.2019.109667}, volume = {94}, year = {2018} } @article{Garcia-Martínez2017, abstract = {AbstractAttention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group. Subsequently, expression profiles of genes surpassing a follow-up threshold of P-value < 1e-03 in the gene-wide analyses were tested in peripheral blood mononucleated cells (PBMCs) of 45 medication-naive adults with ADHD and 39 healthy unrelated controls. We found preliminary evidence for genetic association between RNF122 and ADHD and for its overexpression in adults with ADHD. RNF122 encodes for an E3 ubiquitin ligase involved in the proteasome-mediated processing, trafficking, and degradation of proteins that acts as an essential mediator of the substrate specificity of ubiquitin ligation. Thus, our findings support previous data that place the ubiquitin-proteasome system as a promising candidate for its involvement in the aetiology of ADHD.}, author = {Garcia-Martínez, Iris and Sánchez-Mora, Cristina and Sanchez-Mora, Cristina and Soler Artigas, María and Rovira, Paula and Pagerols, Mireia and Corrales, Montse and Calvo-Sánchez, Eva and Richarte, Vanesa and Bustamante, Mariona and Sunyer, Jordi and Cormand, Bru and Casas, Miquel and Antoni Ramos-Quiroga, Josep and Ramos-Quiroga, Josep Antoni and Ribasés, Marta}, doi = {10.1038/s41598-017-05514-7}, journal = {Scientific Reports}, month = {jul}, title = {Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder}, url = {https://www.nature.com/articles/s41598-017-05514-7.pdf}, volume = {7}, year = {2017} } @article{Sintas2017, author = {Sintas, Cèlia and Fernàndez-Castillo, Noèlia and Vila-Pueyo, Marta and Pozo-Rosich, Patricia and Macaya, Alfons and Cormand, Bru}, doi = {10.1016/j.jpain.2016.11.007}, journal = {Journal of Pain}, month = {apr}, pages = {366-375}, title = {Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs}, url = {https://oadoi.org/10.1016/j.jpain.2016.11.007}, volume = {18}, year = {2017} } @article{Torrico2018, author = {Torrico, Barbara and Shaw, Alex D. and Mosca, Roberto and Vivo-Luque, Norma and Hervas, Amaia and Fernandez-Castillo, Noelia and Aloy, Patrick and Bayes, Monica and Fullerton, Janice M. and Cormand, Bru and Toma, Claudio}, doi = {10.1503/jpn.180184}, journal = {Journal of Psychiatry & Neuroscience}, month = {sep}, pages = {350-359}, title = {Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of LRP1 Across Psychiatric Phenotypes}, url = {https://oadoi.org/10.1503/jpn.180184}, volume = {44}, year = {2018} } @article{Torrico2020, abstract = {The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.L220Ffs*18). Here, we explored the contribution of the seven human 14-3-3 family members in ASD and other psychiatric disorders by investigating the: (i) functional impact of the 14-3-3ζ mutation p.L220Ffs*18 by assessing solubility, target binding and dimerization; (ii) contribution of common risk variants in 14-3-3 genes to ASD and additional psychiatric disorders; (iii) burden of rare variants in ASD and schizophrenia; and iv) 14-3-3 gene expression using ASD and schizophrenia transcriptomic data. We found that the mutant 14-3-3ζ protein had decreased solubility and lost its ability to form heterodimers and bind to its target tyrosine hydroxylase. Gene-based analyses using publicly available datasets revealed that common variants in YWHAE contribute to schizophrenia (p = 6.6 × 10−7), whereas ultra-rare variants were found enriched in ASD across the 14-3-3 genes (p = 0.017) and in schizophrenia for YWHAZ (meta-p = 0.017). Furthermore, expression of 14-3-3 genes was altered in post-mortem brains of ASD and schizophrenia patients. Our study supports a role for the 14-3-3 family in ASD and schizophrenia.}, author = {Torrico, Bàrbara and Antón-Galindo, Ester and Fernàndez-Castillo, Noèlia and Rojo-Francàs, Eva and Ghorbani, Sadaf and Pineda-Cirera, Laura and Hervás, Amaia and Rueda, Isabel and Moreno, Estefanía and Fullerton, Janice M. and Casadó, Vicent and Buitelaar, Jan K. and Rommelse, Nanda and Franke, Barbara and Reif, Andreas and Chiocchetti, Andreas G. and Freitag, Christine and Kleppe, Rune and Haavik, Jan and Toma, Claudio and Cormand, Bru}, doi = {10.3390/jcm9061851}, journal = {Journal of Clinical Medicine}, month = {jun}, pages = {1851}, title = {Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses}, url = {https://doi.org/10.3390/jcm9061851}, volume = {9}, year = {2020} }