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 ...
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 ...
A Study on the Correlation Between Different Learning Abnormalities and Delusional-like Beliefs of Various Contents Research Background Delusions are a major feature of psychotic disorders (such as schizophrenia, bipolar disorder, depression, and certain neurological and autoimmune diseases). Although delusions clinically manifest as fixed erroneou...
New Research Reveals the Mechanism of Atogepant in Migraine Prevention Background Migraine is a common and highly disruptive neurological disorder affecting millions of people worldwide. Calcitonin Gene-Related Peptide (CGRP) is believed to play a key role in the pathophysiology of migraine. CGRP released from sensory trigeminal ganglia neurons in ...
Study on Macular Degeneration Reveals Inhibitory Effect of Natural Killer Cells on Disease Progression Background Age-related Macular Degeneration (AMD) is the leading cause of irreversible blindness among the elderly globally. With an aging population, the incidence of AMD is significantly increasing. Early features of AMD include the accumulation...
Introduction In recent years, oligonucleotide-based therapeutic technologies, such as antisense oligonucleotides (ASOs) and small interfering RNAs (siRNAs), have been widely applied in the treatment of various neurological disorders. The basis for their application is that these technologies can selectively regulate target RNA molecules, which are ...
MGA Deletion Promotes Richter’s Transformation by Regulating Mitochondrial Oxidative Phosphorylation This article mainly focuses on the transformation of chronic lymphocytic leukemia (CLL) into aggressive lymphoma, known as Richter’s Transformation (RT), exploring the function and molecular mechanism of MGA (MAX Gene Associated). MGA is a functiona...