Publications by authors named "E M Rubenstein"
Degradation of aberrant, excess, and regulatory proteins at the endoplasmic reticulum (ER) is a conserved feature of eukaryotic cells, disruption of which contributes to disease. While remarkable progress has been made in recent years, mechanisms and genetic requirements for ER-Associated Degradation (ERAD) remain incompletely understood. We recently conducted a screen for genes required for turnover of a model ER translocon-associated substrate of the Hrd1 ubiquitin ligase in .
View Article and Find Full Text PDFDown syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFStress, Anxiety and Coping in Adults With Down Syndrome: An Exploratory Co-Research Study.
J Appl Res Intellect Disabil
January 2025
Background: At least half of children and adults with Down syndrome have a major mental health concern during their life but few studies ask people with Down syndrome directly about their experience. We used a co-research model to explore anxiety, stress, and coping in adults with Down syndrome.
Methods: Our group of researchers and adults with Down syndrome conducted an online survey on mental health for adults with Down syndrome.
Article Synopsis
- The study investigates how social identity and systems of power influence health outcomes for adults of color with Down syndrome, highlighting disparities in mortality and hospitalization.
- Analysis included data from over 119,000 adults with Down syndrome and 3.2 million without, focusing on age-adjusted rates within various racial-ethnic groups over a period from 2011 to 2019.
- Findings reveal that while mortality rates are similar across racial groups with Down syndrome, marginalized groups experience significantly higher hospitalization rates, indicating poorer health and healthcare access.
Article Synopsis
- * A total of 132,720 adults were analyzed, revealing that 23.3% had been diagnosed with Alzheimer dementia, with an incidence rate of 22.4 cases per 1,000 person-years.
- * The average age at which individuals were first diagnosed with Alzheimer dementia was approximately 54.5 years, with the mean age at death for these patients being around 59.2 years.