Addressing Heterogeneity in Genetic Studies of Cognitive Function: Insights from the ADSP‐PHC [PDF]
Abstract Background The Alzheimer's Disease Sequencing Project Phenotype Harmonization Consortium (ADSP‐PHC) released harmonized longitudinal cognition data across 12 studies enabling genomic analyses of AD related endophenotypes (ng00067.v11 via NIAGADS). We conducted genome‐wide analyses of common and rare variants using whole genome sequencing (WGS)
Yang J +6 more
europepmc +2 more sources
Ythdc1-p300-Klf5 Complex-Mediated Golgi Dysfunction Promotes Aortic Aneurysm. [PDF]
In their Research Article (DOI: https://doi.org/10.1002/advs.202512116* lF: 14.1 Q1), Wenli Wang and co‐workers identifies a novel lncRNA m6A modification‐dependent regulatory mechanism of vascular homeostasis, and constructs a predictive model for post‐operative short‐term death based on AD patient's features, providing a platform to be able to ...
Wang WL +22 more
europepmc +2 more sources
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana +37 more
core +3 more sources
DNA Damage Triggers Golgi Dispersal via DNA-PK and GOLPH3 [PDF]
The response to DNA damage, which regulates nuclear processes such as DNA repair, transcription, and cell cycle, has been studied thoroughly. However, the cytoplasmic response to DNA damage is poorly understood. Here, we demonstrate that DNA damage triggers dramatic reorganization of the Golgi, resulting in its dispersal throughout the cytoplasm.
Farber-Katz, Suzette E. +12 more
openaire +2 more sources
Differential gene expression in multiple neurological, inflammatory and connective tissue pathways in a spontaneous model of human small vessel stroke [PDF]
Aims: Cerebral small vessel disease (SVD) causes a fifth of all strokes plus diffuse brain damage leading to cognitive decline, physical disabilities and dementia.
Bailey, Emma L. +8 more
core +2 more sources
Proteomics Insights Into Lysosome Biogenesis and Maturation. [PDF]
ABSTRACT Lysosomes constitute the main degradative organelle of most eukaryotic cells and are capable of breaking down a wide spectrum of biomolecules, including proteins, lipids, glycans, and DNA/RNA. They play crucial roles in the regulation of cellular homeostasis, acting as metabolic signaling centers for the correlation of nutrient availability ...
Hirn K, Fajardo-Callejón S, Winter D.
europepmc +2 more sources
Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage [PDF]
Peer ...
Christiansen, Ole B. +9 more
core +1 more source
The highly conserved Golgi phosphoprotein 3 (GOLPH3) protein has been described as a Phosphatidylinositol 4-phosphate [PI(4)P] effector at the Golgi. GOLPH3 is also known as a potent oncogene, commonly amplified in several human tumors.
Stefano Sechi +7 more
doaj +1 more source
Epithelial-to-mesenchymal transition drives a pro-metastatic Golgi compaction process through scaffolding protein PAQR11 [PDF]
Tumor cells gain metastatic capacity through a Golgi phosphoprotein 3-dependent (GOLPH3-dependent) Golgi membrane dispersal process that drives the budding and transport of secretory vesicles. Whether Golgi dispersal underlies the prometastatic vesicular
Alan R. Burns +26 more
core +1 more source
Efficient Golgi Forward Trafficking Requires GOLPH3-Driven, PI4P-Dependent Membrane Curvature [PDF]
Vesicle budding for Golgi-to-plasma membrane trafficking is a key step in secretion. Proteins that induce curvature of the Golgi membrane are predicted to be required, by analogy to vesicle budding from other membranes. Here, we demonstrate that GOLPH3, upon binding to the phosphoinositide PI4P, induces curvature of synthetic membranes in vitro and the
Juliati Rahajeng +8 more
openalex +4 more sources

