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HSV-1 alters lipid metabolism and induces lipid droplet accumulation in functionally impaired mouse dendritic cells
(Elsevier BV, 2025-05)
Mónica A. Farías
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Felipe A. Cancino
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Areli J. Navarro
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DUARTE PEÑALOZA, LUISA FERNANDA
;
Abel A. Soto
Scopus© Citations 6 8
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Reactivity Indices Profile: A Companion Tool of the Potential Energy Surface for the Analysis of Reaction Mechanisms. Nucleophilic Aromatic Substitution Reactions as Test Case
(2013)
Contreras, Renato
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CAMPODONICO GALDAMES, PAOLA ROSSANA
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Ormazábal-Toledo, Rodrigo
3Scopus© Citations 24
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A functional dissociation of the left frontal regions that contribute to single word production tasks
(2021)
Justyna O. Ekert
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Diego L. Lorca-Puls
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GAJARDO VIDAL, ANDREA ELIZABETH
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Jennifer T. Crinion
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Thomas M.H. Hope
Scopus© Citations 10 2
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Differences in cortical processing of facial emotions in broader autism phenotype
(2022)
SOTO ICAZA, PATRICIA
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Brice Beffara-Bret
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Lorena Vargas
;
Francisco Aboitiz
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BILLEKE BOBADILLA, PABLO ERNESTO
<jats:p>Autism Spectrum Disorder (ASD) is a heterogeneous condition that affects face perception. Evidence shows that there are differences in face perception associated with the processing of low spatial frequency (LSF) and high spatial frequency (HSF) of visual stimuli between non-symptomatic relatives of individuals with autism (broader autism phenotype, BAP) and typically developing individuals. However, the neural mechanisms involved in these differences are not fully understood. Here we tested whether face-sensitive event related potentials could serve as neuronal markers of differential spatial frequency processing, and whether these potentials could differentiate non-symptomatic parents of children with autism (pASD) from parents of typically developing children (pTD). To this end, we performed electroencephalographic recordings of both groups of parents while they had to recognize emotions of face pictures composed of the same or different emotions (happiness or anger) presented in different spatial frequencies. We found no significant differences in the accuracy between groups but lower amplitude modulation in the Late Positive Potential activity in pASD. Source analysis showed a difference in the right posterior part of the superior temporal region that correlated with ASD symptomatology of the child. These results reveal differences in brain processing of recognition of facial emotion in BAP that could be a precursor of ASD.</jats:p>
2Scopus© Citations 6
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Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
(2022)
Yanireth Jimenez
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Cesar Paulsen
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Eduardo Turner
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Sebastian Iturra
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Oscar Cuevas
<jats:p>Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFβ pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.</jats:p>
37Scopus© Citations 4
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Analysing an allelic series of rare missense variants of <i>CACNA1I</i> in a Swedish schizophrenia cohort
(2021)
David Baez-Nieto
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Andrew Allen
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Seth Akers-Campbell
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Lingling Yang
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Nikita Budnik
<jats:title>Abstract</jats:title> <jats:p>CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes CaV3.3, a neuronal voltage-gated calcium channel that underlies a subtype of T-type current that is important for neuronal excitability in the thalamic reticular nucleus and other regions of the brain. Here, we present an extensive functional characterization of 57 naturally occurring rare and common missense variants of CACNA1I derived from a Swedish schizophrenia cohort of more than 10 000 individuals. Our analysis of this allelic series of coding CACNA1I variants revealed that reduced CaV3.3 channel current density was the dominant phenotype associated with rare CACNA1I coding alleles derived from control subjects, whereas rare CACNA1I alleles from schizophrenia patients encoded CaV3.3 channels with altered responses to voltages. CACNA1I variants associated with altered current density primarily impact the ionic channel pore and those associated with altered responses to voltage impact the voltage-sensing domain. CaV3.3 variants associated with altered voltage dependence of the CaV3.3 channel and those associated with peak current density deficits were significantly segregated across affected and unaffected groups (Fisher’s exact test, P = 0.034). Our results, together with recent data from the SCHEMA (Schizophrenia Exome Sequencing Meta-Analysis) cohort, suggest that reduced CaV3.3 function may protect against schizophrenia risk in rare cases. We subsequently modelled the effect of the biophysical properties of CaV3.3 channel variants on thalamic reticular nucleus excitability and found that compared with common variants, ultrarare CaV3.3-coding variants derived from control subjects significantly decreased thalamic reticular nucleus excitability (P = 0.011). When all rare variants were analysed, there was a non-significant trend between variants that reduced thalamic reticular nucleus excitability and variants that either had no effect or increased thalamic reticular nucleus excitability across disease status. Taken together, the results of our functional analysis of an allelic series of &gt;50 CACNA1I variants in a schizophrenia cohort reveal that loss of function of CaV3.3 is a molecular phenotype associated with reduced disease risk burden, and our approach may serve as a template strategy for channelopathies in polygenic disorders.</jats:p>
Scopus© Citations 22 1
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
(2016)
Simona Balestrini
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Mathieu Milh
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Claudia Castiglioni
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Kevin Lüthy
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Mattea J. Finelli
2Scopus© Citations 113
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Intravenous administration of anti-inflammatory mesenchymal stem cell spheroids reduces chronic alcohol intake and abolishes binge-drinking
(2018)
EZQUER, EDUARDO FERNANDO
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Paola Morales
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María Elena Quintanilla
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Carolyne Lespay-Rebolledo
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Daniela Santapau
1Scopus© Citations 43 1

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