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Research Articles
- NME7 maintains primary cilium assembly, ciliary microtubule stability, and Hedgehog signaling
Researchers discover that NME7, a lesser studied protein, is required for cilium assembly and Hedgehog signaling, impacting ciliary microtubule stability. This study advances our understanding of primary cilium assembly and functions.
- High-resolution analysis of human centromeric chromatin
Centromeres contain two physically distinct CENP-A nucleosomes, one of which associates with the CENP-C complex, and regulating CENP-C levels is critical for accessibility of the centromeric chromatin fiber for transcriptional machinery.
- A role for mitochondria–ER crosstalk in amyotrophic lateral sclerosis 8 pathogenesis
Mitochondrial dysfunction induces mutant VAPB inclusions via ER–mitochondrial contacts in ALS8, providing a mechanism for age-related disease manifestation/progression in this genetic ALS form.
- Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell
This report investigates the effect of 21 variants in the hSLC39A8 gene experimentally on protein expression, localization, and uptake of metal ions, and computationally on dimerization stability.
- Cryo-EM structures reveal the H+/citrate symport mechanism of Drosophila INDY
We provide cryo-EM structures of Drosophila INDY in diverse functional states at near-atomic resolution. Our structures reveal its conformational cycle, sodium-independent H+/citrate co-transport, and phospholipid effects on stability. These findings provide molecular insights into the enigmatic transport mechanism of INDY.
- Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease
Peroxisome-mediated cholesterol trafficking is essential for the ciliary localization of the polycystin complex to prevent the occurrence of polycystic kidney.
- Endolysosome-targeted nanoparticle delivery of antiviral therapy for coronavirus infections
Lysosome-targeting nanoparticles, loaded with mefloquine, inhibit coronavirus infection in mouse MHV-A59 and human OC43 coronavirus model systems, as well as SARS-CoV-2 WA1 and its Omicron variant in a human lung epithelium model.
- Assessment of PRMT6-dependent alternative splicing in pluripotent and differentiating NT2/D1 cells
PRMT6, through its methyltransferase activity, contributes to alternative splicing in both pluripotent and neuronally differentiating NT2/D1 cells, affecting primarily cassette exons.
- Unconventional receptor functions and location-biased signaling of the lactate GPCR in the nucleus
HCAR1 as GPCR for Lactate is highly expressed in many cancers due to the Warburg effect. We show HCAR1 has a nuclear localization where it promotes cancer malignancy through chromatin regulation, DNA damage repair, translational regulation, and intranuclear signaling.
- Sustained induction of autophagy enhances survival during prolonged starvation in newt cells
Salamanders display remarkable starvation resistance. We show that newt cells maintain constitutive activation of autophagy during prolonged starvation. This may underlie the high starvation resistance of newts and may contribute to the development of novel therapies.
- Impaired primitive erythropoiesis and defective vascular development in Trim71-KO embryos
We report that Trim71-KO leads to decreased embryonic primitive erythropoiesis and impaired vascular development, and provide evidence for direct repression of Eomes via Trim71-mediated mRNA binding.
- PICH impacts the spindle assembly checkpoint via its DNA translocase and SUMO-interaction activities
Genome-edited cell lines for PICH depletion or replacement to loss of function mutants revealed an unidentified PICH function impacting SAC activity through modulating Bub1 association at kinetochores.
- FGF7 as an essential mediator for the onset of ankylosing enthesitis related to psoriatic dermatitis
This study sheds light on the pathogenic association between the skin and joints in psoriatic arthritis. The authors indicated that IL-17A, which is produced in the skin, induces joint manifestations via FGF7 signaling in the pathology of psoriatic arthritis.
- Canonical and non-canonical PRC1 differentially contribute to regulation of neural stem cell fate
Epigenetic regulation affects the capacity of stem cells to proliferate and differentiate, with canonical PRC1 being particularly important for neural stem cell fate.
- A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects
This study identifies the first human pathogenic variant in GORASP1, the gene encoding the Golgi stacking protein GRASP65, and demonstrates its consequences on glycosylation and mitotic progression.
Resources
- Gastric cancer genomics study using reference human pangenomes
Using a concept called graph pangenome for many individual genomes as the baseline can improve the identification and characterization of large-sized genomic variations for disease genomics study.
Methods
- Visualisation of Euglena gracilis organelles and cytoskeleton using expansion microscopy
We applied expansion microscopy to visualise the cytoskeleton, mitochondria, and chloroplasts of Euglena gracilis, which enabled high-resolution imaging, revealing cellular structures and organelle development, demonstrating expansion microscopy’s utility as a complementary method to electron microscopy for studying this protist.