Study on the Protective Effect of ERP57 on ALS-related Mutant TDP-43 in Neuronal Cells Introduction Amyotrophic Lateral Sclerosis (ALS) is a severe neurodegenerative disease affecting motor neurons. Almost all ALS cases (97%) and about 50% of frontotemporal dementia (FTD) cases show a pathological form of Tar-DNA binding protein-43 (TDP-43), indica...

Pediatric medulloblastoma (MB) is the most common malignant pediatric brain tumor. Due to its unique molecular and clinical characteristics, the treatment of this type of tumor has been a focus of clinical research. Existing treatments mainly include maximal surgical resection, radiotherapy, and chemotherapy, but these treatments often lead to long...

Neuromolecular Medical Research on Hereditary Leukodystrophy - A Research Report on the Discovery of a Novel ARSA Gene Mutation Research Background Hereditary leukodystrophies are a group of genetic disorders primarily affecting the white matter of the central nervous system. They encompass a wide range of conditions, mainly caused by enzyme defici...

Academic Report on the Scientific Paper “circPTP4A2 Promotes Microglial Polarization in Ischemic Stroke via the miR-20b-5p/YTHDF1/TIMP2 Axis” Background Introduction Ischemic stroke (IS) is brain tissue necrosis caused by cerebral blood flow obstruction and is the second leading cause of disability and death globally. Current clinical treatment str...

Inflammasome Activation Regulates Apoptosis and Pyroptosis in Astrocytes under Ischemic Conditions Introduction Ischemic stroke is one of the main mechanisms leading to brain damage, characterized by hypoxia and energy deprivation in local brain regions due to interrupted blood flow. In recent years, research has found that inflammatory responses p...

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...