Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...
Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...
Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...
Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...
Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...
Research Background With global population aging, the number of lung resection surgeries has increased significantly, including primary lung cancer resection, removal of lung metastases, and surgeries to treat lung infections or emphysema. However, little is known about the systemic stress response after thoracic surgery and interventions to improv...
A2A Adenosine Receptor Exacerbates Synaptic Loss and Memory Deficits in APP/PS1 Mice Alzheimer’s disease (AD) is a neurodegenerative disorder associated with progressive cognitive decline, characterized by the deposition of extracellular β-amyloid (Aβ) plaques and the accumulation of hyperphosphorylated tau protein in neurons. Some epidemiological ...
Development of Semi-synthetic Guanidino-lipoglycopeptide Antibiotics and Study of Their In Vitro and In Vivo Antibacterial Activities Background With the slowdown in antimicrobial drug development and the rapid increase of resistant strains, antibiotic resistance has become a major threat to human health. Particularly, Gram-positive pathogens such ...
Parkinson’s Disease Mouse Model: IL-10 Gene Delivery Inhibits Neuroinflammation and Neurodegeneration As research into the pathogenesis of Parkinson’s Disease (PD) deepens, the role of neuroinflammation in PD is gradually being revealed. This study by Simone Bido and his team, published in “Science Translational Medicine”, explores the effects of t...
Academic Report The incidence of global Invasive Fungal Infections (IFIs) has increased over the past few decades, primarily affecting immunocompromised patients, and these infections are often associated with high mortality and morbidity rates. Aspergillus fumigatus is one of the most common and deadly IFI pathogens. The main obstacles to effectiv...