PEREZ PALMA, EDUARDO ESTEBAN
Preferred name
PEREZ PALMA, EDUARDO ESTEBAN
Main Affiliation
Email
eduardoperez@udd.cl
ORCID
0000-0003-0546-5141
Scopus Author ID
55981322300
37 results
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Item type:Publication, GRIN Portal: An Interactive Web Application Exploring GRIN Genes and Related Disorders(2023); 1 - Some of the metrics are blocked by yourconsent settings
Item type:Product, Dataset - Delineation of functionally essential protein regions for 242 neurodevelopmental genesNeurodevelopmental disorders (NDDs) are a heterogeneous group of conditions involving various forms of disruption to brain development. Over hundreds of genes have been found to be associated with NDDs thus far. However, NDDs are complex and mutations in NDD associated genes are not straightforward to conceptualize at the molecular level, for which three-dimensional (3D) structures of proteins provide an informative mean. Here, we present the ES-NDD a tool that provides access to the aggregation of >470 experimentally and computationally modeled 3D monomeric structures as well as multimeric protein complexes and their characterization using a consensus approach to identity Essential3D sites are conserved across human paralogs. With ES-NDD a user is able to interactively explore 14, 377 Essential3D sites, that are paralog conserved, population constraint and enriched for pathogenic variants in the 3D structures, in the context of 71,479 population variants aggregated from gnomAD, 7,463 pathogenic (likely-pathogenic) variants from ClinVar and HGMD as well as functional and domain annotations from Uniprot.4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genomic analysis in Chilean pediatric patients with drug-resistant epilepsy(2023); ; 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Polygenic scores contribution to Parkinson’s disease comorbidities(Oxford University Press (OUP), 2025); Costin LeuComorbidities are common in Parkinson’s disease and significantly impact the disease progression and management. While polygenic scores have been widely used to assess genetic risk for complex diseases, their role in comorbidity presentation in Parkinson’s disease remains unclear. This study investigates whether genetic predisposition to comorbidities, as measured by polygenic scores, differs between individuals with Parkinson’s disease and the general population and explores how genetic risk influences disease onset and sex-related differences. We analysed data from 4144 individuals with Parkinson’s disease and 370 480 individuals from the general population in the UK Biobank, focusing on four comorbidities with high-quality genome-wide association study data: Type 2 diabetes, major depressive disorder, migraine headaches and epilepsy. We first compared polygenic score distributions between individuals with Parkinson’s disease and the general population. While our findings indicate that comorbidities and polygenic risk scores do not significantly differ between individuals with Parkinson’s disease and the general population, we show an association with disease onset and sex-specific differences. Individuals with earlier disease onset (50–70 years old) had higher genetic risk for major depressive disorder (odds ratio: 2.19, P-value: 1.27 × 10⁻¹⁵) and epilepsy (odds ratio: 1.58, P-value: 0.00845). Additionally, a female participant with Parkinson’s disease exhibited higher genetic risk scores for major depressive disorder (odds ratio: 1.5, P-value: 0.0119) and migraine headaches (odds ratio: 2.1, P-value: 0.0155), while a male participant displayed higher genetic risk scores for Type 2 diabetes (odds ratio: 2.7, P-value: 2.11 × 10⁻¹⁷). Comorbidity-polygenic score did not differ between people with versus without Parkinson’s disease, yet within Parkinson’s disease, a higher genetic burden for specific comorbidities was linked to earlier onset and sex-specific presentation, implicating common variants as modifiers of clinical heterogeneity rather than the primary disease risk. These results enhance our understanding of the genetic influences shaping the broader clinical presentation of Parkinson’s disease and highlight the need for further research into the interplay between genetic risk factors, comorbidities and disease heterogeneity.Scopus© Citations 2 3 - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Continuing education course on genetic epilepsies was held by the Chilean society of epileptology(Wiley, 2026-02-26); 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins(2022); 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype(2022); 2