Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...
Research Report: Effect of Bruton Tyrosine Kinase Inhibitor Evobrutinib on Myelin Repair and CNS Inflammation in Multiple Sclerosis Background Introduction Multiple Sclerosis (MS) is a demyelinating disease of the Central Nervous System (CNS) where the myelin sheath of patients is damaged by inflammation. Traditionally, MS is considered to be prima...
Stage-Dependent Immune Responses Mediated by AQP4 Antibodies in NMOSD Pathology in the Central Nervous System Academic Background Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune diseases of the central nervous system (CNS), characterized by the production of specific antibodies against the water channel protein Aquaporin-4 (AQP4). Al...
Ferroptosis Inhibitors Improve Early and Delayed Treatment Outcomes of Mild Spinal Cord Injury Academic Background Spinal cord injury (SCI) causes significant secondary damage not only in the acute period but also in the chronic period. These injuries are typically triggered by multiple factors, including oxidative stress, inflammatory response, an...
The Influence of APOEε4 on the pTau Interactome in Sporadic Alzheimer’s Disease Background Alzheimer’s disease (AD) is a neurodegenerative disease characterized by extracellular deposition and aggregation of β-amyloid protein (Aβ) forming various types of Aβ deposits and the intracellular accumulation and assembly of abnormally phosphorylated tau p...
ADAM10-Mediated Human Prion Protein Cleavage and Its Relationship with Neurodegenerative Diseases Background The endopeptidic processing of multifunctional proteins is crucial for regulating their physiological functions and plays a significant role in various pathological conditions. Prion protein (PrP), a widely expressed glycosylphosphatidylinos...
Cross-Comparative Study of DNA Methylation Patterns in the Frontal Lobe White Matter of Multiple System Atrophy, Parkinson’s Disease, and Progressive Supranuclear Palsy Academic Background Multiple System Atrophy (MSA) is a rare neurodegenerative disease characterized by neuronal loss and gliosis, accompanied by glial cytoplasmic inclusions (GCIs) ...
Background Introduction Alzheimer’s disease (AD) is an age-related neurodegenerative disease characterized by the death of neurons in the brain. Its main pathological features include extracellular β-amyloid plaques and intracellular neurofibrillary tangles (NFTs). β-amyloid plaques are primarily composed of aggregated Amyloid beta peptides (Aβ). A...
Somatic and Germline PRNP Variants in Sporadic Human Prion Disease: A Neuropathological Study Introduction Prion diseases are a class of infectious, progressive, and fatal neurodegenerative diseases characterized by the pathological folding and aggregation of prion protein (PrP). Prion protein is encoded by the PRNP gene, with normal cellular prion...
Cerebral amyloid angiopathy (CAA) is a disease caused by the deposition of amyloid-beta (Aβ) in cerebral blood vessels. It is common not only in the elderly and almost all patients with Alzheimer’s disease (AD) but can also occur independently of other AD-related pathologies. The presence and severity of CAA promote the progression of AD-related cl...