59 research outputs found

    Richer concepts are better remembered: number of features effects in free recall

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    Many models of memory build in a term for encoding variability, the observation that there can be variability in the richness or extensiveness of processing at encoding, and that this variability has consequences for retrieval. In four experiments, we tested the expectation that encoding variability could be driven by the properties of the to-be-remembered item. Specifically, that concepts associated with more semantic features would be better remembered than concepts associated with fewer semantic features. Using feature listing norms we selected sets of items for which people tend to list higher numbers of features (high NoF) and items for which people tend to list lower numbers of features (low NoF). Results showed more accurate free recall for high NoF concepts than for low NoF concepts in expected memory tasks (Experiments 1–3) and also in an unexpected memory task (Experiment 4). This effect was not the result of associative chaining between study items (Experiment 3), and can be attributed to the amount of item-specific processing that occurs at study (Experiment 4). These results provide evidence that stimulus-specific differences in processing at encoding have consequences for explicit memory retrieval

    De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

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    Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS) of the enzyme cis-prenyltransferase (cis-PTase), involved in dolichol biosynthesis and dolichol-dependent protein glycosylation in the endoplasmic reticulum. An autosomal recessive form of retinitis pigmentosa (retinitis pigmentosa 59) has been associated with a recurrent DHDDS variant. Moreover, two recurring de novo substitutions were detected in a few cases presenting with neurodevelopmental disorder, epilepsy, and movement disorder. We evaluated a large cohort of patients (n=25) with de novo pathogenic variants in DHDDS and provided the first systematic description of the clinical features and long-term outcome of this new neurodevelopmental and neurodegenerative disorder. The functional impact of the identified variants was explored by yeast complementation system and enzymatic assay. Patients presented during infancy or childhood with a variable association of neurodevelopmental disorder, generalized epilepsy, action myoclonus/cortical tremor, and ataxia. Later in the disease course they experienced a slow neurological decline with the emergence of hyperkinetic and/or hypokinetic movement disorder, cognitive deterioration, and psychiatric disturbances. Storage of lipidic material and altered lysosomes were detected in myelinated fibers and fibroblasts, suggesting a dysfunction of the lysosomal enzymatic scavenger machinery. Serum glycoprotein hypoglycosylation was not detected and, in contrast to retinitis pigmentosa and other congenital disorders of glycosylation involving dolichol metabolism, the urinary dolichol D18/D19 ratio was normal. Mapping the disease-causing variants into the protein structure revealed that most of them clustered around the active site of the DHDDS subunit. Functional studies using yeast complementation assay and in vitro activity measurements confirmed that these changes affected the catalytic activity of the cis-PTase and showed growth defect in yeast complementation system as compared with the wild-type enzyme and retinitis pigmentosa-associated protein. In conclusion, we characterized a distinctive neurodegenerative disorder due to de novo DHDDS variants, which clinically belongs to the spectrum of genetic progressive encephalopathies with myoclonus. Clinical and biochemical data from this cohort depicted a condition at the intersection of congenital disorders of glycosylation and inherited storage diseases with several features akin to of progressive myoclonus epilepsy such as neuronal ceroid lipofuscinosis and other lysosomal disorders

    Mitochondrial physiology

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    As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative phosphorylation. The unifying concept of the protonmotive force provides the framework for developing a consistent theoretical foundation of mitochondrial physiology and bioenergetics. We follow the latest SI guidelines and those of the International Union of Pure and Applied Chemistry (IUPAC) on terminology in physical chemistry, extended by considerations of open systems and thermodynamics of irreversible processes. The concept-driven constructive terminology incorporates the meaning of each quantity and aligns concepts and symbols with the nomenclature of classical bioenergetics. We endeavour to provide a balanced view of mitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes. Uniform standards for evaluation of respiratory states and rates will ultimately contribute to reproducibility between laboratories and thus support the development of data repositories of mitochondrial respiratory function in species, tissues, and cells. Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery

    Mitochondrial physiology

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    As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative phosphorylation. The unifying concept of the protonmotive force provides the framework for developing a consistent theoretical foundation of mitochondrial physiology and bioenergetics. We follow the latest SI guidelines and those of the International Union of Pure and Applied Chemistry (IUPAC) on terminology in physical chemistry, extended by considerations of open systems and thermodynamics of irreversible processes. The concept-driven constructive terminology incorporates the meaning of each quantity and aligns concepts and symbols with the nomenclature of classical bioenergetics. We endeavour to provide a balanced view of mitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes. Uniform standards for evaluation of respiratory states and rates will ultimately contribute to reproducibility between laboratories and thus support the development of data repositories of mitochondrial respiratory function in species, tissues, and cells. Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery

    Modeling the Structure and Dynamics of Semantic Processing

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    The contents and structure of semantic memory have been the focus of much recent research, with major advances in the development of distributional models, which use word co-occurrence information as a window into the semantics of language. In parallel, connectionist modeling has extended our knowledge of the processes engaged in semantic activation. However, these two lines of investigation have rarely been brought together. Here, we describe a processing model based on distributional semantics in which activation spreads throughout a semantic network, as dictated by the patterns of semantic similarity between words. We show that the activation profile of the network, measured at various time points, can successfully account for response times in lexical and semantic decision tasks, as well as for subjective concreteness and imageability ratings. We also show that the dynamics of the network is predictive of performance in relational semantic tasks, such as similarity/relatedness rating. Our results indicate that bringing together distributional semantic networks and spreading of activation provides a good fit to both automatic lexical processing (as indexed by lexical and semantic decisions) as well as more deliberate processing (as indexed by ratings), above and beyond what has been reported for previous models that take into account only similarity resulting from network structure

    Understanding the Meanings of Abstract Concepts: Keeping it Grounded and Real

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    Abstract words refer to things and entities in the world that cannot be directly experienced through our senses (e.g., truth, morality). How we learn, represent, and use abstract words is one of the deepest problems in cognitive science today. I investigated this question in two experiments. In Experiment 1, I examined the effects of six semantic richness variables (sensory experience, valence, number of associates, context availability, arousal, semantic neighbourhood, and number of associates) on lexical-semantic processing for 207 abstract nouns. Behavioural tasks were lexical decision (LDT) and semantic categorization (SCT). Results showed that participants were faster to respond in LDT to words high in context availability, and faster to respond in SCT to words high in valence and sensory experience. These results suggest that abstract meanings might be grounded in our experiences with situational contexts and our bodily experiences. To further assess the extent of grounding for abstract word meanings (Experiment 2), I tested thirty-one pairs of undergraduate students in a variation of the Taboo task, in which participants communicated the meaning of the “secret” word (10 concrete, e.g., insect; 20 abstract nouns, e.g., impulse) to a partner in 1 minute or less. Analysis of verbal and gestural data yielded a number of important insights. Most notably, on a majority of trials, participants activated their partner’s concept of self or other (“You”, “Dalai Lama”), then placed that self into a situational context (“in class”) and then described the mental states, feelings, goals, etc. the self may experience. This, together with the results of my quantitative data analyses, suggests extensive recruitment of information derived from our experiences with the social and physical world and that such information is an important aspect of what we know about abstract words

    Does culture influence how we think?

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    Bibliography: p. 29-3
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