A5090710438- Pancreatic function and diabetes
- Endoplasmic Reticulum Stress and Disease
- Genetics and Neurodevelopmental Disorders
- Pancreatitis Pathology and Treatment
- Diabetes and associated disorders
- RNA regulation and disease
- Metabolism, Diabetes, and Cancer
- ATP Synthase and ATPases Research
- Adenosine and Purinergic Signaling
Washington University in St. Louis
2021-2024
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested diabetes mellitus, optic nerve atrophy, progressive neurodegeneration. Recent clinical findings have revealed as spectrum disorder. Therefore, genotype-phenotype correlation analysis needed for diagnosis therapeutic development. Here, we focus on c.1672C>T, p.R558C variant, which highly prevalent Ashkenazi Jewish population. Clinical investigation indicated that patients carrying...
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident secretory protein that reduces inflammation and promotes proliferation in pancreatic β cells. Numerous studies have highlighted the potential of MANF as a therapeutic agent for diabetes mellitus (DM), making it essential to understand mechanisms underlying MANF's functions. In our previous search molecule mediates signaling, we identified Neuroplastin (NPTN) binding partner localizes on cell...
Abstract Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident secretory protein that reduces inflammation and promotes proliferation in pancreatic β cells. Numerous studies have highlighted the potential of MANF as a therapeutic agent for diabetes mellitus (DM), making it essential to understand mechanisms underlying MANF’s functions. In our previous search molecule mediates signaling, we identified Neuroplastin (NPTN) binding partner localizes...
Abstract Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested diabetes mellitus, optic nerve atrophy, progressive neurodegeneration. Recent clinical findings have revealed as spectrum disorder. Therefore, genotype-phenotype correlation analysis needed for diagnosis therapeutic development. Here, we focus on c.1672C>T, p.R558C variant which highly prevalent Ashkenazi-Jewish population. Clinical investigation indicates that...