Publications by authors named "Caruana N"

Article Synopsis
  • - A rare genetic condition involving mitochondrial complex III deficiency and lactic acidosis, characterized by scalp alopecia, was identified in two unrelated cases and discussed further with a participant from the Undiagnosed Diseases Network (UDN).
  • - The participant had two autosomal recessive disorders discovered through genome sequencing: mitochondrial complex III deficiency and cataracts, with specifics on previously documented pathogenic variants for each condition.
  • - A combination of enzyme assays and cellular proteomics showed clear dysfunction in complex III and low levels of a crucial protein, validating the genetic mutations' pathogenic effects and broadening understanding of these rare disorders.
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Article Synopsis
  • Mitochondria are vital organelles containing around 1100 proteins, which play key roles in metabolism, particularly in active tissues like skeletal muscle that increase mitochondrial content with exercise.
  • Traditional methods like western blotting have shown limited increases in a small number of mitochondrial proteins after exercise training, indicating only a fraction of the entire mitochondrial protein landscape is being studied.
  • There's a lack of consistency in the mitochondrial proteins identified across different human training studies, highlighting the need for future research to focus on improving the reliability of findings regarding exercise-induced changes in protein abundance.
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Analyses of mitochondrial adaptations in human skeletal muscle have mostly used whole-muscle samples, where results may be confounded by the presence of a mixture of type I and II muscle fibres. Using our adapted mass spectrometry-based proteomics workflow, we provide insights into fibre-specific mitochondrial differences in the human skeletal muscle of men before and after training. Our findings challenge previous conclusions regarding the extent of fibre-type-specific remodelling of the mitochondrial proteome and suggest that most baseline differences in mitochondrial protein abundances between fibre types reported by us, and others, might be due to differences in total mitochondrial content or a consequence of adaptations to habitual physical activity (or inactivity).

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Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mortality. A six-month-old infant presented with riboflavin unresponsive lactic acidosis and life-threatening cardiomyopathy.

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Developing motor synchrony with a peer (through interventions such as the mirror game) can yield collaborative, cognitive and social benefits. However, it is also well established that observation by an audience can improve cognition. The combined and relative advantages offered by motor synchronization and audience effects are not yet understood.

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Aerobic and resistance exercise (RE) induce distinct molecular responses. One hypothesis is that these responses are antagonistic and unfavorable for the anabolic response to RE when concurrent exercise is performed. This thesis may also depend on the participants' training status and concurrent exercise order.

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During social interactions, the ability to detect and respond to gaze-based joint attention bids often involves the evaluation of non-communicative eye movements. However, very little is known about how much humans are able to track and parse spatial information from these non-communicative eye movements over time, and the extent to which this influences joint attention outcomes. This was investigated in the current study using an interactive computer-based joint attention game.

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Autistic people have been said to have 'problems' with joint attention, that is, looking where someone else is looking. Past studies of joint attention have used tasks that require autistic people to continuously look at and respond to eye-gaze cues. But joint attention can also be done using other social cues, like pointing.

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The Commander complex is required for endosomal recycling of diverse transmembrane cargos and is mutated in Ritscher-Schinzel syndrome. It comprises two sub-assemblies: Retriever composed of VPS35L, VPS26C, and VPS29; and the CCC complex which contains twelve subunits: COMMD1-COMMD10 and the coiled-coil domain-containing (CCDC) proteins CCDC22 and CCDC93. Combining X-ray crystallography, electron cryomicroscopy, and in silico predictions, we have assembled a complete structural model of Commander.

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The potential for robots to support education is being increasingly studied and rapidly realised. However, most research evaluating education robots has neglected to examine the fundamental features that make them more or less effective, given the needs and expectations of learners. This study explored how children's perceptions, expectations and experiences are shaped by aesthetic and functional features during interactions with different robot 'reading buddies'.

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Clark and Fischer's dismissal of extant human-robot interaction research approaches limits opportunities to understand major variables shaping people's engagement with social robots. Instead, this endeavour categorically requires multidisciplinary approaches. We refute the assumption that people cannot (correctly or incorrectly) represent robots as autonomous social agents.

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Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT.

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One of the many purposes for which social robots are designed is education, and there have been many attempts to systematize their potential in this field. What these attempts have in common is the recognition that learning can be supported in a variety of ways because a learner can be engaged in different activities that foster learning. Up to now, three roles have been proposed when designing these activities for robots: as a teacher or tutor, a learning peer, or a novice.

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Context: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes.

Objective: We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts.

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Background: Inadequate sleep is associated with many detrimental health effects, including increased risk of developing insulin resistance and type 2 diabetes. These effects have been associated with changes to the skeletal muscle transcriptome, although this has not been characterised in response to a period of sleep restriction. Exercise induces a beneficial transcriptional response within skeletal muscle that may counteract some of the negative effects associated with sleep restriction.

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Mitochondria are complex organelles containing 13 proteins encoded by mitochondrial DNA and over 1,000 proteins encoded on nuclear DNA. Many mitochondrial proteins are associated with the inner or outer mitochondrial membranes, either peripherally or as integral membrane proteins, while others reside in either of the two soluble mitochondrial compartments, the mitochondrial matrix and the intermembrane space. The biogenesis of the five complexes of the oxidative phosphorylation system are exemplars of this complexity.

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Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (; previously called ) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of has been unclear, and little is known of the protein's precise biological function. In the present paper, we report biallelic variants in identified by genome sequencing in a patient with suspected mitochondrial disease.

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The human visual system has evolved specialized neural mechanisms to rapidly detect faces. Its broad tuning for facial features is thought to underlie the illusory perception of faces in inanimate objects, a phenomenon called face pareidolia. Recent studies on face pareidolia suggest that the mechanisms underlying face processing, at least at the early stages of visual encoding, may treat objects that resemble faces as real faces; prioritizing their detection.

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Mitochondrial defects are implicated in multiple diseases and aging. Exercise training is an accessible, inexpensive therapeutic intervention that can improve mitochondrial bioenergetics and quality of life. By combining multiple omics techniques with biochemical and in silico normalisation, we removed the bias arising from the training-induced increase in mitochondrial content to unearth an intricate and previously undemonstrated network of differentially prioritised mitochondrial adaptations.

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The coordination of attention between individuals is a fundamental part of everyday human social interaction. Previous work has focused on the role of gaze information for guiding responses during joint attention episodes. However, in many contexts, hand gestures such as pointing provide another valuable source of information about the locus of attention.

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Introduction: Judgments of emotion from faces are reportedly impaired in schizophrenia. However, it is unclear whether this is due to a top-down cognitive deficit in sensory information or a fundamental bottom-up perturbation in the early stages of face encoding. This study examined whether deficits in emotion processing reflect imprecision in the initial preconscious registration of emotional face expressions within the visual system.

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Anthropomorphism-the attribution of human qualities to non-human objects-is believed to be a natural tendency which may serve several adaptive functions. One possibility is that anthropomorphism provides an egocentric heuristic by which we can understand the world. It may also be a strategy for reducing our subjective sense of loneliness.

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Eye movements provide important signals for joint attention. However, those eye movements that indicate bids for joint attention often occur among non-communicative eye movements. This study investigated the influence of these non-communicative eye movements on subsequent joint attention responsivity.

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The successful integration of eye gaze direction and emotion cues from faces is important not only for co-ordinated interactions, but also for the detection of social signals alerting us to threat posed by a conspecific, or elsewhere in our immediate environment. It is now well-established that people with schizophrenia experience aberrant eye gaze and facial emotion processing. These social-cognitive differences might contribute to the maintenance of socially-themed delusions which are characterised by the hyper-attribution of threatening intentions to others.

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The four complexes of the mitochondrial respiratory chain are critical for ATP production in most eukaryotic cells. Structural characterisation of these complexes has been critical for understanding the mechanisms underpinning their function. The three proton-pumping complexes, Complexes I, III and IV associate to form stable supercomplexes or respirasomes, the most abundant form containing 80 subunits in mammals.

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