Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism.
Slide of the Week
Seth Pollak, PhD – Slide of the Week
Although the configurations of facial muscles that humans perceive vary continuously, we often represent emotions as categories. This suggests that, as in other domains of categorical perception such as speech and color perception, humans become attuned to features of emotion cues that map onto meaningful thresholds for these signals given their environments.
Robert Pearce, MD, PhD – Slide of the Week
Previous experiments using genetic and pharmacological manipulations have provided strong evidence that etomidate impairs synaptic plasticity and memory by modulating a5-subunit containing GABAARs (a5-GABAARs). Since a5-GABAARs mediate tonic inhibition (TI) in hippocampal CA1 pyramidal cells, and etomidate enhances TI, etomidate enhancement of TI in pyramidal cells has been proposed as the underlying mechanism (Martin et al., 2009).
Ben Parrell, PhD – Slide of the Week
We present a new computational model of speech motor control: the Feedback-Aware Control of Tasks in Speech or FACTS model. This model is based on a state feedback control architecture, which is widely accepted in non-speech motor domains. The FACTS model employs a hierarchical observer-based architecture, with a distinct higher-level controller of speech tasks and a lower-level controller of speech articulators.
Carrie Niziolek, PhD – Slide of the Week
We listen to ourselves while talking, comparing our acoustic output to an internal auditory representation of speech targets. Previous work has shown that speakers are sensitive to their own natural acoustic variability in their native language, steering deviant productions towards auditory targets while speaking.
Denise M. Ney, PhD – Slide of the Week
Low bone mineral density (BMD) and subsequent skeletal fragility have emerged as a long-term complication of phenylketonuria (PKU). The object of this study is to determine if there are differences in BMD and body composition between male and female participants with PKU.
Albee Messing, VMD, PhD – Slide of the Week
Glial cells have increasingly been implicated as active participants in the pathogenesis of neurological diseases, but critical pathways and mechanisms controlling glial function and secondary non-cell autonomous neuronal injury remain incompletely defined.
Marsha R. Mailick, PhD – Slide of the Week
The FMR1 premutation affects millions of people around the globe. Despite the high prevalence, the potential impact of this genetic variant on human health has not been fully explored. Here, we created the first population-based FMR1-informed biobank to discover the pattern of health characteristics in premutation carriers.
Ruth Litovsky, PhD – Slide of the Week
To investigate the feasibility of using functional near infrared spectroscopy (fNIRS) to image cortical activity in cochlear implant (CI) users and normal hearing (NH) adults, using either visual-speech or auditory-speech.
James Li, PhD – Slide of the Week
Neuroticism is a stable and heritable personality trait that is strongly linked to depression. Yet, little is known about its association with late life depression, as well as how neuroticism eventuates into depression.