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...
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 ...
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...
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...
Long-term Functional and Epigenetic Changes in Adult Monocytes Induced by AS01-adjuvanted Vaccine Background: Vaccine adjuvants are widely used to enhance the immune response of vaccines. In particular, the AS01 adjuvant, a key component in several approved vaccines, has demonstrated high immunogenicity and efficacy. AS01 exerts its adjuvant effect...
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 ...
Dengue Virus Research: Impact of Genetic Mutations on Virus Transmission and Discoveries Introduction This study was conducted by Allyson N. X. Choi et al. and published in Science Translational Medicine on July 31, 2024. The research aims to reveal the impact of genetic changes in dengue virus on its transmission ability and disease outbreaks duri...