Nε-lysine acetylation in the ER is an essential component of the quality control machinery. ER acetylation is ensured by a membrane transporter, AT-1/SLC33A1, which translocates cytosolic acetyl-CoA into the ER lumen, and two acetyltransferases, ATase1 and ATase2, which acetylate nascent polypeptides within the ER lumen. Dysfunctional AT-1, as caused by gene mutation or duplication events, results in severe disease phenotypes.
Month: April 2021
Artificial intelligence can accelerate clinical diagnosis of fragile X syndrome
An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome.
Virtual reality work earns award for acoustics researcher
Waisman researcher Ellen Peng, PhD, is the recipient of an Editor Award from the American Speech-Language Hearing Association (ASHA) for her work on the impact of room acoustics on listener comprehension. Her article “Listening Effort …
Tracy L. Hagemann, PhD – Slide of the Week
Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes. In AxD, mutant GFAP in combination with increased GFAP expression result in astrocyte dysfunction and the accumulation of Rosenthal fibers.