Posted on | CategoriesNeurology / School of Medicine | PI: Stefan M. Pulst, MD

Identification of GGC Expansion as a Basis for SCA4 Movement Disorder

Spinocerebellar ataxia type 4 (SCA4) is a rare movement disorder whose symptoms begin in adolescence or adulthood, usually with difficulty walking and balancing. Affected individuals may go on to experience muscle weakness, lose sensation in their hands and feet, and lose their reflexes... Continue reading → Identification of GGC Expansion as a Basis for SCA4 Movement Disorder
Posted on | CategoriesNeurobiology / School of Medicine | PI: Jason Shepherd, PhD

PNMA2 Forms Immunogenic Non-Enveloped Virus-Like Capsids Associated with Paraneoplastic Neurological Syndrome

For people with a rare cancer-associated condition called paraneoplastic syndrome, sudden memory loss, loss of coordination, or other neurological symptoms are often the first sign that a tumor is growing somewhere in the body. The symptoms are caused by the immune system’s response to it. It turns out that some tumors produce brain proteins... Continue reading → PNMA2 Forms Immunogenic Non-Enveloped Virus-Like Capsids Associated with Paraneoplastic Neurological Syndrome
Posted on | CategoriesNeurobiology | PI: Andres Villu Maricq, MD, PhD

Illuminating the Mechanisms Behind Neuronal “Learning”

The strength of each of the thousands of synapses in a given neuron can be rapidly and independently modified in response to experience. What scientists do not yet understand is how distinct synapses distributed along neuronal processes—branches of a neuron which can project far from the cell body—are supplied with the appropriate type and number of neurotransmitter receptors. Continue reading → Illuminating the Mechanisms Behind Neuronal “Learning”
Posted on | CategoriesNeurobiology | PI: Christopher T. Gregg, PhD

Opposite-Sex Parent’s Genetic Impact on Health and Behavior

Parenting is not the only way moms and dads impact the behavior of their offspring. Genes matter, too. Most of our genes are inherited in pairs—one copy from each parent. However, according to new research from the lab of University of Utah Health researcher Christopher Gregg, PhD, each parent has their own genetic impact on hormones and neurotransmitters that control mood and behavior. Continue reading → Opposite-Sex Parent’s Genetic Impact on Health and Behavior
Posted on | CategoriesBiochemistry / Fundamental Biology | PI: Christopher P. Hill, DPhil & Peter Shen, PhD

Structures and Mechanisms of Protein Remodeling Machines

When a cellular protein has done its job or lost its utility, it should be removed, recycled, or remodeled. These tasks are performed by members of the ubiquitous family of AAA ATPases (ATPases associated with diverse cellular activities) that convert the energy of ATP hydrolysis into mechanical forces that can unfold protein aggregates, degrade unwanted proteins, and remodel protein complexes. Continue reading → Structures and Mechanisms of Protein Remodeling Machines
Posted on | CategoriesPhysical Medicine & Rehabilitation / School of Medicine | PI: Jacob George, PhD

Prosthetic Limbs with Neural Connections

For the more than two million people in the United States who have lost a limb, prostheses can restore some function, but never really replace a missing arm or leg. U scientists have been working toward better prosthetic limbs for decades, with the development of technology that connects an artificial limb directly to the user’s nervous system so they can control its movements with their thoughts. Continue reading → Prosthetic Limbs with Neural Connections
Posted on | CategoriesHealth and Disease / Internal Medicine | PI: Weiquan Zhu, PhD , Shannon J. Odelberg, PhD & Dean Y. Li, MD, PhD

ARF6 Plays Key Role in Diabetes-Induced Blindness

University of Utah Health researcher Weiquan Zhu, PhD, and colleagues identified a protein, known as ARF6, which regulates the effects of VEGF by maintaining and amplifying its receptor signaling, thus stimulating a series of cascading responses that lead to diabetic retinal edema. Continue reading → ARF6 Plays Key Role in Diabetes-Induced Blindness
Posted on | CategoriesHealth and Disease / Neurology | PI: Stefan M. Pulst, MD & Daniel R. Scoles, PhD

Therapy for ALS

Amyotrophic lateral sclerosis (ALS) is a catastrophic degeneration of the nervous system with great need for disease-modifying treatments. Stefan Pulst, MD, and his collaborator Daniel Scoles, PhD, were studying a lesser-known but similarly dire condition (spinocerebellar ataxia 2, SCA2) when they identified a gene relevant to both diseases. Continue reading → Therapy for ALS
Posted on | CategoriesHealth and Disease / Psychiatry | PI: Adrian Rothenfluh, PhD

Genetics of Alcohol Abuse – from Flies to Humans

In an unbiased screen, the lab directed by Adrian Rothenfluh, PhD, isolated flies lacking a certain gene (Rsu1) that produces a strong liking for alcohol, even before repeated exposure. Their investigations in Drosophila showed that Rsu1 and downstream signaling molecules regulate actin dynamics; genetic manipulations that increase actin filament turnover lead to accelerated development of alcohol preference, while manipulations that increase actin filament stability abolish the development of preference. Continue reading → Genetics of Alcohol Abuse – from Flies to Humans