17 research outputs found
Aggregation as bacterial inclusion bodies does not imply inactivation of enzymes and fluorescent proteins
BACKGROUND: Many enzymes of industrial interest are not in the market since they are bio-produced as bacterial inclusion bodies, believed to be biologically inert aggregates of insoluble protein. RESULTS: By using two structurally and functionally different model enzymes and two fluorescent proteins we show that physiological aggregation in bacteria might only result in a moderate loss of biological activity and that inclusion bodies can be used in reaction mixtures for efficient catalysis. CONCLUSION: This observation offers promising possibilities for the exploration of inclusion bodies as catalysts for industrial purposes, without any previous protein-refolding step
Casas M: Personality profile of adult ADHD: the alternative five factor model. Psychiatry Res 2012, 198(1):130–134.Submit your manuscript at www.biomedcentral.com/submit
Attention-deficit/hyperactivity disorder (ADHD) is one of the most frequently diagnosed disorders in childhood affecting around 3% to 5% of adults worldwide. Most of the studies have been carried out using the Five Factor Model (FFM). Given the value and importance of describing adult ADHD in terms of general personality structure for a better conceptualization of this disorder, this study contributes adding new data on an Alternative Five Factor Model (AFFM) of personality. The aim of the present study is twofold: To assess the personality profile of adults with ADHD under the AFFM perspective, and to test the discriminant validity of the Zuckerman-Kuhlman Personality Questionnaire (ZKPQ) in differentiating ADHD subjects vs. normal range controls. A sample of 217 adults (64% male) meeting ADHD diagnosis (DSM-IV) was paired by age and sex with 434 normal-range controls. Logistic regression analysis showed that high scores on Neuroticism-Anxiety, Impulsivity and General Activity, and low on Work Activity were the most powerful predictors of being endorsed with an ADHD diagnosis. Results may suggest refinements in the personality assessment of ADHD as it seems that the ZKPQ provides more specific subscales for the description and conceptualization of this disorder
Gloria Palomar f, Mariana Nogueira b,f,Núria Gómez-Barros b,f,
www.elsevier.com/locate/euroneuro Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD Cristina Sanchez-Mora a,b,c, Bru Cormand c,d,e
Transcriptome profiling in adult attention-deficit hyperactivity disorder
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with an estimated heritability of around 70%. Although the largest genome-wide association study (GWAS) meta-analysis on ADHD identified independent loci conferring risk to the disorder, the molecular mechanisms underlying the genetic basis of the disorder remain to be elucidated. To explore ADHD biology, we ran a two-step transcriptome profiling in peripheral blood mononuclear cells (PBMCs) of 143 ADHD subjects and 169 healthy controls. Through this exploratory study we found eight differentially expressed genes in ADHD. These results highlight promising candidate genes and gene pathways for ADHD and support the use of peripheral tissues to assess gene expression signatures for ADHD. (c) 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/
Gene-wide association study reveals RNF122 ubiquitin ligase as a novel susceptibility gene for attention deficit hyperactivity disorder
Attention 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.Over the course of this investigation, I.G. M. has been a recipient of a predoctoral fellowship from the Vall d’Hebron Research Institute (PRED-VHIR-2012), Barcelona, Spain, and currently she is a recipient of a contract from the 7th Framework Programme for Research, Technological Development and Demonstration, European Commission (AGGRESSOTYPE_FP7HEALTH2013/602805). C.S. M. is a recipient of a Sara Borrell contract from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (CD15/00199) and a mobility grant from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (MV16/00039). M.S. A. is a recipient of a contract from the Biomedical Research Networking Centre in Mental Health (CIBERSAM), Madrid, Spain. P.R. is a recipient of a predoctoral fellowship from the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR), Generalitat de Catalunya, Spain (2016FI_B 00899). M.P. is recipient of a predoctoral fellowship from the Vall d’Hebron Research Institute, Barcelona, Spain (PRED-VHIR-2013) and a research grant from the Deutscher Akademischer Austauschdienst (DAAD), Germany (Research Grants - Short-Term Grants, 2017). E.C. S. is a recipient of a predoctoral fellowship from the Collaborative Research Training Programme for Medical Doctors (PhD4MD), Centre for Genomic Regulation (CRG) and Vall d’Hebron Research Institute (VHIR), Barcelona, Spain (II14/00018). M.R. is a recipient of a Miguel de Servet contract from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (CP09/00119 and CPII15/00023). This investigation was supported by Instituto de Salud Carlos III (PI12/01139, PI14/01700, PI15/01789, PI16/01505), and cofinanced by the European Regional Development Fund (ERDF), Agència de Gestió d’Ajuts Universitaris i de Recerca-AGAUR, Generalitat de Catalunya (2014SGR1357, 2014SGR0932), Ministerio de EconomÃa, Industria y Competitividad, Spain (SAF2012-33484, SAF2015-68341-R), the European College of Neuropsychopharmacology (ECNP network: ‘ADHD across the lifespan’), Departament de Salut, Generalitat de Catalunya, Spain, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation. This project has also received funding from the European Union’s Horizon 2020 Research and Innovation Programme under the grant agreements No 667302 and 643051
An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples
Aggregation as bacterial inclusion bodies does not imply inactivation of enzymes and fluorescent proteins
Background: Many enzymes of industrial interest are not in the market since they are bio-produced as bacterial inclusion bodies, believed to be biologically inert aggregates of insoluble protein. Results: By using two structurally and functionally different model enzymes and two fluorescent proteins we show that physiological aggregation in bacteria might only result in a moderate loss of biological activity and that inclusion bodies can be used in reaction mixtures for efficient catalysis. Conclusion: This observation offers promising possibilities for the exploration of inclusion bodies as catalysts for industrial purposes, without any previous protein-refolding step
Gene-wide association study reveals RNF122 ubiquitin ligase as a novel susceptibility gene for attention deficit hyperactivity disorder
Attention 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.Over the course of this investigation, I.G. M. has been a recipient of a predoctoral fellowship from the Vall d’Hebron Research Institute (PRED-VHIR-2012), Barcelona, Spain, and currently she is a recipient of a contract from the 7th Framework Programme for Research, Technological Development and Demonstration, European Commission (AGGRESSOTYPE_FP7HEALTH2013/602805). C.S. M. is a recipient of a Sara Borrell contract from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (CD15/00199) and a mobility grant from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (MV16/00039). M.S. A. is a recipient of a contract from the Biomedical Research Networking Centre in Mental Health (CIBERSAM), Madrid, Spain. P.R. is a recipient of a predoctoral fellowship from the Agència de Gestió d’Ajuts Universitaris i de Recerca (AGAUR), Generalitat de Catalunya, Spain (2016FI_B 00899). M.P. is recipient of a predoctoral fellowship from the Vall d’Hebron Research Institute, Barcelona, Spain (PRED-VHIR-2013) and a research grant from the Deutscher Akademischer Austauschdienst (DAAD), Germany (Research Grants - Short-Term Grants, 2017). E.C. S. is a recipient of a predoctoral fellowship from the Collaborative Research Training Programme for Medical Doctors (PhD4MD), Centre for Genomic Regulation (CRG) and Vall d’Hebron Research Institute (VHIR), Barcelona, Spain (II14/00018). M.R. is a recipient of a Miguel de Servet contract from the Instituto de Salud Carlos III, Ministerio de EconomÃa, Industria y Competitividad, Spain (CP09/00119 and CPII15/00023). This investigation was supported by Instituto de Salud Carlos III (PI12/01139, PI14/01700, PI15/01789, PI16/01505), and cofinanced by the European Regional Development Fund (ERDF), Agència de Gestió d’Ajuts Universitaris i de Recerca-AGAUR, Generalitat de Catalunya (2014SGR1357, 2014SGR0932), Ministerio de EconomÃa, Industria y Competitividad, Spain (SAF2012-33484, SAF2015-68341-R), the European College of Neuropsychopharmacology (ECNP network: ‘ADHD across the lifespan’), Departament de Salut, Generalitat de Catalunya, Spain, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation. This project has also received funding from the European Union’s Horizon 2020 Research and Innovation Programme under the grant agreements No 667302 and 643051
Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder
Attention 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