rudyvdbrink/CitationDatabase huggingface dataset:
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Blood cells, molecules & diseases, 2018

Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP. The objectives of this study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect larger deletions/duplications present in GBA1 in GD patients from Brazil. Thirty-three unrelated Brazilian GD patients, previously genotyped by the Sanger method (both pathogenic alleles identified=29 patients, only one allele identified=3 patients, no pathogenic alleles identified=1 patient), were evaluated by the MLPA assay. MLPA was compatible with the previous results obtained by Sanger sequencing and identified an additional allele (a heterozygous deletion in intron 7 in one patient with only one mutation identified by Sanger). Our data suggest that, although larger deletions/duplications do not appear to be frequent in GD, the P338-X1 GBA kit for MLPA appears to be a good method for GBA1 analysis. Additional investigations should be performed in order to characterize the remaining four uncharacterized alleles of our sample.
Sex differences in the use of anticipatory brain activity to encode emotional events.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011

Women and men differ in the way they experience emotional events. Previous work has indicated that the impact of an emotional event depends on how it is anticipated. Separately, it has been shown that anticipation affects memory formation. Here, we assessed whether anticipatory brain activity influences the encoding of emotional events into long-term memory and, in addition, how biological sex affects the use of such activity. Electrical brain activity was recorded from the scalps of healthy men and women while they performed an incidental encoding task (indoor/outdoor judgments) on pleasant, unpleasant, and neutral pictures. Pictures were preceded by a cue that indicated the valence of the upcoming item. Memory was tested after a 20 min delay with a recognition task incorporating the remember/know procedure. Brain activity before picture onset predicted later memory of an event. Crucially, the role of anticipatory activity depended entirely on the valence of a picture and the sex of an individual. Right-lateralized anticipatory activity selectively influenced the encoding of unpleasant pictures in women, but not in men. These findings indicate that anticipatory processes influence the way in which women encode negative events into memory. The selective use of such activity may indicate that anticipatory activity is one mechanism by which individuals regulate their emotions.
Resting-state networks predict individual differences in common and specific aspects of executive function.
NeuroImage, 2015

The goal of the present study was to examine relationships between individual differences in resting state functional connectivity as ascertained by fMRI (rs-fcMRI) and performance on tasks of executive function (EF), broadly defined as the ability to regulate thoughts and actions. Unlike most previous research that focused on the relationship between rs-fcMRI and a single behavioral measure of EF, in the current study we examined the relationship of rs-fcMRI with individual differences in subcomponents of EF. Ninety-one adults completed a resting state fMRI scan and three separate EF tasks outside the magnet: inhibition of prepotent responses, task set shifting, and working memory updating. From these three measures, we derived estimates of common aspects of EF, as well as abilities specific to working memory updating and task shifting. Using Independent Components Analysis (ICA), we identified across the group of participants several networks of regions (Resting State Networks, RSNs) with temporally correlated time courses. We then used dual regression to explore how these RSNs covaried with individual differences in EF. Dual regression revealed that increased higher common EF was associated with connectivity of a) frontal pole with an attentional RSN, and b) Crus I and II of the cerebellum with the right frontoparietal RSN. Moreover, higher shifting-specific abilities were associated with increased connectivity of angular gyrus with a ventral attention RSN. The results of the current study suggest that the organization of the brain at rest may have important implications for individual differences in EF, and that individuals higher in EF may have expanded resting state networks as compared to individuals with lower EF.
The effect of contrast polarity reversal on face detection: evidence of perceptual asymmetry from sweep VEP.
Vision research, 2015

Contrast polarity inversion (i.e., turning dark regions light and vice versa) impairs face perception. We investigated the perceptual asymmetry between positive and negative polarity faces (matched for overall luminance) using a sweep VEP approach in the context of face detection (Journal of Vision 12 (2012) 1-18). Phase-scrambled face stimuli alternated at a rate of 3 Hz (6 images/s). The phase coherence of every other stimulus was parametrically increased so that a face gradually emerged over a 20-s stimulation sequence, leading to a 3 Hz response reflecting face detection. Contrary to the 6 Hz response, reflecting low-level visual processing, this 3 Hz response was larger and emerged earlier over right occipito-temporal channels for positive than negative polarity faces. Moreover, the 3 Hz response emerged abruptly to positive polarity faces, whereas it increased linearly for negative polarity faces. In another condition, alternating between a positive and a negative polarity face also elicited a strong 3 Hz response, indicating an asymmetrical representation of positive and negative polarity faces even at supra-threshold levels (i.e., when both stimuli were perceived as faces). Overall, these findings demonstrate distinct perceptual representations of positive and negative polarity faces, independently of low-level cues, and suggest qualitatively different detection processes (template-based matching for positive polarity faces vs. linear accumulation of evidence for negative polarity faces).
Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease.
Neurobiology of aging, 2012

Intracellular Ca(2+) dysregulation is an underlying component of Alzheimer's disease (AD) pathophysiology, and recent evidence implicates the ryanodine receptor (RyR) in the disease pathway. Three genes code for different RyR isoforms and each gene transcript gives rise to several alternatively spliced messenger RNAs (mRNAs). These variants confer distinct functionality to the RyR channel, such as altering Ca(2+) release properties or subcellular localization. Changes in RyR isoform expression and alternative splicing have not been examined for potential roles in AD pathogenesis. Here, we compare mRNA levels of the RyR2 and RyR3 isoforms as well as specific alternatively spliced variants across vulnerable brain regions from postmortem samples of individuals with no cognitive impairment (NCI), mild cognitive impairment (MCI), and AD. We find an increase in RyR2 transcripts in MCI brains compared with no cognitive impairment. In addition, there is a reduction in a RyR2 splice variant, associated with an antiapoptotic function, in MCI and AD brains. These alterations in RyR expression at early disease stages may reflect the onset of pathologic mechanisms leading to later neurodegeneration.
Re-examining the role of context in implicit sequence learning.
Consciousness and cognition, 2014

Implicit sequence learning typically develops gradually, is often expressed quite rigidly, and is heavily reliant on contextual features. Recently we reported results pointing to the role of context-specific processes in the acquisition and expression of implicit sequence knowledge (D'Angelo, Milliken, Jiménez, & Lupiáñez, 2013). Here we examined further the role of context in learning of first-order conditional sequences, and whether context also plays a role in learning second-order conditional structures. Across five experiments we show that the role of context in first-order conditional sequences may not be as clear as we had previously reported, while at the same time we find evidence for the role of context in learning second-order conditional sequences. Together the results suggest that temporal context may be sufficient to learn complementary first-order conditional sequences, but that additional contextual information is necessary to concurrently learn higher-order sequential structures.
Disorders of the enteric nervous system - a holistic view.
Nature reviews. Gastroenterology & hepatology, 2021

The enteric nervous system (ENS) is the largest division of the peripheral nervous system and closely resembles components and functions of the central nervous system. Although the central role of the ENS in congenital enteric neuropathic disorders, including Hirschsprung disease and inflammatory and functional bowel diseases, is well acknowledged, its role in systemic diseases is less understood. Evidence of a disordered ENS has accumulated in neurodegenerative diseases ranging from amyotrophic lateral sclerosis, Alzheimer disease and multiple sclerosis to Parkinson disease as well as neurodevelopmental disorders such as autism. The ENS is a key modulator of gut barrier function and a regulator of enteric homeostasis. A 'leaky gut' represents the gateway for bacterial and toxin translocation that might initiate downstream processes. Data indicate that changes in the gut microbiome acting in concert with the individual genetic background can modify the ENS, central nervous system and the immune system, impair barrier function, and contribute to various disorders such as irritable bowel syndrome, inflammatory bowel disease or neurodegeneration. Here, we summarize the current knowledge on the role of the ENS in gastrointestinal and systemic diseases, highlighting its interaction with various key players involved in shaping the phenotypes. Finally, current flaws and pitfalls related to ENS research in addition to future perspectives are also addressed.
Higher Peripheral Inflammatory Signaling Associated With Lower Resting-State Functional Brain Connectivity in Emotion Regulation and Central Executive Networks.
Biological psychiatry, 2019

Researchers document bidirectional pathways linking peripheral inflammation and neural circuitries subserving emotion processing and regulation. To extend this work, we present results from two independent studies examining the relationship between inflammation and resting-state functional connectivity (rsFC), as measured by functional magnetic resonance imaging.
Epilepsy: a classification for all seasons?
Epilepsia, 2012

Epilepsy classification is close to the heart of every clinician because it affects every consultation. Acceptance of change to fundamental concepts is difficult and implementation of new ideas requires considerable effort. It is therefore not surprising that the 2010 Organization of the epilepsies has evoked much passion and its fair share of criticism and controversy. Debate has been positive and has already led to modifications and gradual acceptance of the new framework. Although classification will never be perfect and continues to evolve with increasing knowledge, the time for updating our thinking to reflect current concepts and scientific understanding is well and truly here. Ongoing discussion will help to further mature the new organization.
Comparison of (18)F-FET and (18)F-FDG PET in brain tumors.
Nuclear medicine and biology, 2009

The purpose of this study was to compare the diagnostic value of positron emission tomography (PET) using [(18)F]-fluorodeoxyglucose ((18)F-FDG) and O-(2-[(18)F]fluoroethyl)-l-tyrosine ((18)F-FET) in patients with brain lesions suspicious of cerebral gliomas.
Cerebellar atrophy in neurodegeneration-a meta-analysis.
Journal of neurology, neurosurgery, and psychiatry, 2017

The cerebellum has strong cortical and subcortical connectivity, but is rarely taken into account for clinical diagnosis in many neurodegenerative conditions, particularly in the absence of clinical ataxia. The current meta-analysis aims to assess patterns of cerebellar grey matter atrophy in seven neurodegenerative conditions (Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), multiple system atrophy (MSA), progressive supranuclear palsy (MSP)).
Exercise Caution: Questions to Ask Adolescents Who May Exercise Too Hard.
International journal of environmental research and public health, 2018

When the primary goal of exercise is to compensate for food intake and to alter body shape and weight, it is considered compulsive and may be harmful. Compulsive exercise (CE) is important in the pathogenesis of eating disorders (EDs). Many healthy adolescents engage in CE too, and this may indicate a risk for EDs. Our aim was to learn more about ED risk factors tied to CE and to try to isolate questions to ask in order to probe for high ED risk in adolescents engaging in CE. Using two well-established instruments (the Structural Analysis of Social Behavior and the Eating Disorders Examination Questionnaire), we studied associations between ED variables and CE in healthy adolescent boys and girls. We examined gender-specific items to generate the best possible fit for each gender. Individuals with CE displayed significantly greater ED pathology and more self-criticism, and this pattern was stronger in girls than in boys. Risk factors for ED among individuals with CE differed slightly for boys and girls. We put forward a set of gender-specific questions that may be helpful when probing for ED risk among adolescents engaging in CE.
Paternal experience suppresses adult neurogenesis without altering hippocampal function in Peromyscus californicus.
The Journal of comparative neurology, 2011

Paternal care is rare among mammals, occurring in ≈6% of species. California mice (Peromyscus californicus) are unusual; fathers participate extensively in raising their young and display the same components of parental care as mothers, with the exception of nursing. Parenting is a complex experience, having stressful and enriching aspects. The hippocampus is sensitive to experience and responds to both stress and environmental enrichment with changes in structure and function. In rats, where females care exclusively for offspring, parenting is associated with suppressed hippocampal adult neurogenesis. Since this effect has been causally linked to lactation, it is unlikely that fathers would show a similar change. To investigate this issue, we examined adult neurogenesis in the hippocampus of California mouse fathers compared to males without pups and observed reduced adult neurogenesis. Similar effects were found in California mouse mothers. Next, we investigated whether behaviors linked to the hippocampus, namely, object recognition and novelty-suppressed feeding, were altered in fathers, and observed no substantial changes. During caregiving, suppressed adult neurogenesis does not appear to be related to changes in behaviors associated with the hippocampus, although it is possible that there are other effects on hippocampal function.
Quantification of postsynaptic density proteins: glutamate receptor subunits and scaffolding proteins.
Hippocampus, 2012

The postsynaptic density (PSD) protein complex has long been a major target of proteomics in neuroscience. As the number of glutamate receptors on a synapse is one of the main determinants of synaptic efficacy, determining the absolute numbers of receptors in the PSD is necessary for estimating the amplitude of the excitatory postsynaptic current (EPSC) in individual synapses. Moreover, as the receptor molecules are embedded in a macromolecular complex within the PSD, stoichiometry between the receptors and other PSD proteins could help explain the functional and regional specialization of the synapses and their possible roles in synaptic plasticity. Here, I review various studies concerned with the quantification of PSD proteins.
Phosphoinositide and Erk signaling pathways mediate activity-driven rodent olfactory sensory neuronal survival and stress mitigation.
Journal of neurochemistry, 2015

Olfactory sensory neurons (OSNs) are the initial site for olfactory signal transduction. Therefore, their survival is essential to olfactory function. In the current study, we demonstrated that while odorant stimulation promoted rodent OSN survival, it induced generation of reactive oxygen species in a dose- and time-dependent manner as well as loss of membrane potential and fragmentation of mitochondria. The MEK-Erk pathway played a critical role in mediating these events, as its inhibition decreased odorant stimulation-dependent OSN survival and exacerbated intracellular stress measured by reactive oxygen species generation and heat-shock protein 70 expression. The phosphoinositide pathway, rather than the cyclic AMP pathway, mediated the odorant-induced activation of the MEK-Erk pathway. These findings provide important insights into the mechanisms of activity-driven OSN survival, the role of the phosphoinositide pathway in odorant signaling, and demonstrate that odorant detection and odorant stimulation-mediated survival proceed via independent signaling pathways. This mechanism, which permits independent regulation of odorant detection from survival signaling, may be advantageous if not diminished by repeated or prolonged odor exposure. We investigated the role of odorant stimulation in generating cellular stress and the molecular mechanisms mitigating such stress and promoting neuronal survival. Odorant stimulation promoted olfactory sensory neuron (OSN) survival and also induced intracellular oxidative stress, which was exacerbated when MEK/Erks pathway was inhibited. Sensory stimulation simultaneously activated at least two parallel pathways, the AC/cAMP cascade responsible for odorant detection, and phosphoinositide hydrolysis to promote odorant stimulation-dependent neuronal survival odorants may activate parallel signaling cascades to mediate sensory detection and sensory stimulation-dependent survival. AC, adenylyl cyclase; cAMP, cyclic adenosine monophosphate; Erk, extracellular signal-regulated kinase; MEK, MAPK/ERK kinase.
Differential Arc expression in the hippocampus and striatum during the transition from attentive to automatic navigation on a plus maze.
Neurobiology of learning and memory, 2016

The strategies utilized to effectively perform a given task change with practice and experience. During a spatial navigation task, with relatively little training, performance is typically attentive enabling an individual to locate the position of a goal by relying on spatial landmarks. These (place) strategies require an intact hippocampus. With task repetition, performance becomes automatic; the same goal is reached using a fixed response or sequence of actions. These (response) strategies require an intact striatum. The current work aims to understand the activation patterns across these neural structures during this experience-dependent strategy transition. This was accomplished by region-specific measurement of activity-dependent immediate early gene expression among rats trained to different degrees on a dual-solution task (i.e., a task that can be solved using either place or response navigation). As expected, rats increased their reliance on response navigation with extended task experience. In addition, dorsal hippocampal expression of the immediate early gene Arc was considerably reduced in rats that used a response strategy late in training (as compared with hippocampal expression in rats that used a place strategy early in training). In line with these data, vicarious trial and error, a behavior linked to hippocampal function, also decreased with task repetition. Although Arc mRNA expression in dorsal medial or lateral striatum alone did not correlate with training stage, the ratio of expression in the medial striatum to that in the lateral striatum was relatively high among rats that used a place strategy early in training as compared with the ratio among over-trained response rats. Altogether, these results identify specific changes in the activation of dissociated neural systems that may underlie the experience-dependent emergence of response-based automatic navigation.
How does intentionality of encoding affect memory for episodic information?
Learning & memory (Cold Spring Harbor, N.Y.), 2016

Episodic memory enables the detailed and vivid recall of past events, including target and wider contextual information. In this paper, we investigated whether/how encoding intentionality affects the retention of target and contextual episodic information from a novel experience. Healthy adults performed (1) a What-Where-When (WWW) episodic memory task involving the hiding and delayed recall of a number of items (what) in different locations (where) in temporally distinct sessions (when) and (2) unexpected tests probing memory for wider contextual information from the WWW task. Critically, some participants were informed that memory for WWW information would be subsequently probed (intentional group), while this came as a surprise for others (incidental group). The probing of contextual information came as a surprise for all participants. Participants also performed several measures of episodic and nonepisodic cognition from which common episodic and nonepisodic factors were extracted. Memory for target (WWW) and contextual information was superior in the intentional group compared with the incidental group. Memory for target and contextual information was unrelated to factors of nonepisodic cognition, irrespective of encoding intentionality. In addition, memory for target information was unrelated to factors of episodic cognition. However, memory for wider contextual information was related to some factors of episodic cognition, and these relationships differed between the intentional and incidental groups. Our results lead us to propose the hypothesis that intentional encoding of episodic information increases the coherence of the representation of the context in which the episode took place. This hypothesis remains to be tested.
Length matters: Improved high field EEG-fMRI recordings using shorter EEG cables.
Journal of neuroscience methods, 2016

The use of concurrent EEG-fMRI recordings has increased in recent years, allowing new avenues of medical and cognitive neuroscience research; however, currently used setups present problems with data quality and reproducibility.
Nervous mechanisms of locomotion in different directions.
Current opinion in physiology, 2019

Locomotion, that is active propulsive movement of the body in space, is a vital motor function. Intensive studies of the main, for the majority of living beings, form of locomotion, forward locomotion, have revealed essential features of the organization and operation of underlying neural mechanisms. However, animals and humans are capable to locomote not only forward but also in other directions in relation to the body axis, e.g. backward, sideways, etc. Single steps in different directions are also used for postural corrections during locomotion and during standing. Recent studies of mechanisms underlying control of locomotion in different directions have greatly expanded our knowledge about locomotor system and can contribute to improvement of rehabilitation strategies aimed at restoration of locomotion and balance control in patients. This review outlines recent advances in the studies of locomotion in different directions in lower and higher vertebrates, with special attention given to the neuronal locomotor mechanisms.