A5055141379- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Cerebral Palsy and Movement Disorders
- Simone de Beauvoir and Sartre
- Neural dynamics and brain function
- Visual perception and processing mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Diverse Educational Innovations Studies
- Child Nutrition and Feeding Issues
- Retinal Development and Disorders
- RNA Research and Splicing
- Birth, Development, and Health
- French Historical and Cultural Studies
- Economic theories and models
- Communism, Protests, Social Movements
- Complex Systems and Time Series Analysis
- Family and Disability Support Research
- Cytomegalovirus and herpesvirus research
- RNA and protein synthesis mechanisms
- Circadian rhythm and melatonin
- Financial Markets and Investment Strategies
- Infrared Target Detection Methodologies
- Neural and Behavioral Psychology Studies
- CRISPR and Genetic Engineering
- Consumer Market Behavior and Pricing
The University of Melbourne
2009-2024
Duke University
2018-2019
Research Triangle Park Foundation
2014
National Institute of Environmental Health Sciences
2014
Australian College of Optometry
2008-2013
Emory University
2011-2013
The Royal Melbourne Hospital
2009-2012
Vanderbilt University
2011
Victoria University
2011
Women's and Children's Hospital
2009
The efficacy of pharmaceutical cognitive enhancers in everyday complex tasks remains to be established. Using the knapsack optimization problem as a stylized representation difficulty encountered daily life, we discover that methylphenidate, dextroamphetamine, and modafinil cause value attained task diminish significantly compared placebo, even if chance finding optimal solution (~50%) is not reduced significantly. Effort (decision time number steps taken find solution) increases...
<b>Background:</b> The autosomal recessive disorder Niemannn-Pick type C (NPC) presents in adulthood with psychosis or cognitive deficits associated supranuclear gaze palsies. While saccadic innervation to the extraocular muscles is generated brainstem, frontal lobes play an integral role initiation of volitional saccades and suppression unwanted reflexive saccades. No study has examined frontally driven control eye movements NPC. <b>Objective:</b> To examine self-paced antisaccades as well...
In Saccharomyces cerevisiae, non-coding RNAs, including cryptic unstable transcripts (CUTs), are subject to degradation by the exosome. The Trf4/5-Air1/2-Mtr4 polyadenylation (TRAMP) complex in S. cerevisiae is a nuclear exosome cofactor that recruits degrade RNAs. Trf4/5 poly(A) polymerases, Mtr4 an RNA helicase, and Air1/2 putative RNA-binding proteins contain five CCHC zinc knuckles (ZnKs). One central question how TRAMP complex, especially protein, recognizes its substrates. To...
<h3>BACKGROUND AND PURPOSE:</h3> Voxel-based analysis has suggested that deep gray matter rather than cortical regions is initially affected in adult Niemann-Pick type C. We sought to examine a range of structures adults with NPC and relate these clinical variables. <h3>MATERIALS METHODS:</h3> Ten patients (18–49 years age) were compared 27 age- sex-matched controls, subcortical automatically segmented from normalized T1-weighted MR images. Absolute volumes (in cubic millimeters) generated...
Background and purpose: Niemann–Pick disease type C (NPC) is a progressive neurovisceral disorder associated with dystonia, ataxia characteristic gaze palsy. Neuropathological studies have demonstrated brainstem atrophy neuronal inclusions loss, neurofibrillary tangles, although it not known whether this pathology can be detected in vivo or how these changes relate to illness variables, particularly ocular‐motor changes. Our aim was utilize method for atrophy, validated supranuclear palsy...
<h3>BACKGROUND AND PURPOSE:</h3> Variable alterations to the structure of corpus callosum have been described in adults with NPC, a neurometabolic disorder known result both white and gray matter pathology. This study sought examine group adult patients NPC compared callosal matched controls, relate state trait illness variables. <h3>MATERIALS METHODS:</h3> Nine were control subjects (<i>n</i> = 26) on age sex. The was segmented from midsagittal section T1-weighted images all subjects, total...
RNA polymerase II (Pol II) elongation in metazoans is thought to require phosphorylation of serine 2 (Ser2-P) the Pol C-terminal domain (CTD) by P-TEFb complex, CDK-9/cyclin T. Another Ser2 kinase CDK-12/cyclin K, which requires upstream CDK-9 activity has been identified Drosophila and human cells. We show that regulation Ser2-P C. elegans soma similar other metazoan systems, but germline independent CDK-9, largely only CDK-12. The observed differences are not due differential tissue...
It has been demonstrated previously that symmetric, homodimeric proteins are energetically favored, which explains their abundance in nature. proposed such symmetric homodimers underwent gene duplication and fusion to evolve into protein topologies have a arrangement of secondary structure elements--"symmetric superfolds". Here, the ROSETTA design software was used computationally engineer perfectly variant imidazole glycerol phosphate synthase its corresponding homodimer. The new protein,...
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one the primary outcome measures in clinical trial assessing miglustat as treatment for NPC. Neuropathology widespread NPC, however, and could be expected affect other parameters. We compared velocity, latency, gain, antisaccade error percentage self-paced saccade generation 9 adult NPC patients data from 10 age-matched controls. These were correlated...
Temporally sparse stimuli have been found to produce larger multifocal visual evoked potentials than rapid contrast-reversal stimuli. We compared the contrast-response functions of conventional contrast-reversing (CR) and three grades temporally stimuli, examining both changes in response amplitude signal-to-noise ratio (SNR). All were presented dichoptically normal adult human subjects. One stimulus variant, slowest pattern pulse, had interleaved monocular binocular Response amplitudes SNRs...
Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature NPC a vertical supranuclear gaze palsy particularly affecting saccades. However, horizontal saccades are also impaired and as consequence parameter related to peak saccadic velocity was used outcome measure in the clinical trial miglustat, first drug approved several jurisdictions for treatment NPC. As NPC-related neuropathology widespread brain we examined...
Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available miglustat, an iminosugar that inhibits the accumulation of metabolites neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how rate white matter change differed between treated non-treated adult-onset NPC patient groups. Nine patients (seven undergoing with two not treated)...
Visual evoked responses to dichoptically presented multifocal stimuli were recorded for 92 eyes. Two stimulus variants explored: temporally sparse and rapidly contrast reversing. We used hierarchal decomposition (HD) represent the in terms of a small number potentially unique component waveforms that are interrelated multivariate linear autoregressive (MLAR) relationship. The HD method exploits temporal correlations over range delays estimate parallel, feedforward feedback relationships...
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Abstract Mutations in the Caenorhabditis elegans RNA polymerase II AMA-1/RPB-1 subunit that cause α-amanitin resistance and/or developmental defects were isolated previously. We identified 12 of these mutations and mapped them onto Saccharomyces cerevisiae RPB1 structure to provide insight into AMA-1 regions are essential for development a multicellular organism.