Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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.
In a study published in Aging Cell, researchers at the University of Wisconsin–Madison show that mice making too much of a human protein called AT-1 show signs of early aging and premature death, which are also symptoms of the human disorder progeria. Researchers were able to reverse the signs of accelerated aging and early death …
The aberrant accumulation of toxic protein aggregates is a key feature of many neurodegenerative diseases, including Huntington’s disease, amyotrophic lateral sclerosis and Alzheimer’s disease. As such, improving normal proteostatic mechanisms is an active target for biomedical research.
Several Waisman Center investigators played key roles in crafting research proposals that were recently selected as ‘cluster hires’ by the University of Wisconsin-Madison. UW–Madison’s Cluster Hiring Initiative was launched in 1998 as an innovative partnership between the university, state and the Wisconsin Alumni Research Foundation (WARF). According to the UW-Madison Office of the Provost, the …
Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation Legend: AT-1 Tg animals display changes in neuronal morphology and imbalanced synaptic plasticity. (A-D) Morphological assessment of hippocampal neurons in culture. Phalloidin staining (upper panels) and unbiased computer-driven reconstruction (lower panels) of both WT and AT-1 Tg neurons (A …
Waisman Center investigator Luigi Puglielli had trouble with only one class in medical school: biochemistry. Yet today he uses biochemical approaches to study some of the vital molecular mechanisms that regulate brain physiology and pathology across the lifespan. Puglielli, who is a professor in the Department of Medicine, focuses on trying to understand how proteins …
A new mouse model, developed by researchers at the University of Wisconsin–Madison, is the first to show that when more of a specific biological molecule moves between different parts of nerve cells in the mouse brain, it can lead to behaviors that resembles some aspects of autism spectrum disorder (ASD) in humans.
January 19, 2016 Channel 3000 University of Wisconsin researchers say they’ve found a treatment to clean up the plaques that form in the brain of mice with Alzheimer’s disease. The research published in the journal Brain shows that compounds that inhibit two cellular proteins can help clean up the plaques found in the brain of …
