Publications by authors named "Marta Murray"
Article Synopsis
- Pathogenic variants in the O-GlcNAc transferase gene (OGT) are linked to OGT-CDG, a congenital disorder causing intellectual disabilities that may arise from issues in early neuroectodermal development.
- Researchers created a patient-specific induced pluripotent stem cell line and a control line using CRISPR/Cas9 to examine differentiation during embryogenesis, finding no major issues in stemness but significant changes in O-GlcNAc levels during ectoderm differentiation.
- As differentiation progressed to neuronal stem cells, notable morphological differences emerged between the patient and control lines, indicating that O-GlcNAcylation plays a vital role in the architecture of early neuroectoderm, despite
O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) is an essential enzyme that modifies proteins with O-GlcNAc. Inborn OGT genetic variants were recently shown to mediate a novel type of congenital disorder of glycosylation (OGT-CDG), which is characterised by X-linked intellectual disability (XLID) and developmental delay. Here, we report an OGTC921Y variant that co-segregates with XLID and epileptic seizures, and results in loss of catalytic activity.
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- High levels of erythropoietin (Epo) can harm bone health in adults, leading to bone loss in mice and increasing fracture risk in older men.
- Researchers created special mice without Epo receptors in bone-forming cells (osteoprogenitors) to study how Epo works on bones.
- They found that these special mice had more bone volume and fewer bone breakdown cells compared to regular mice when exposed to Epo, showing that Epo affects how bones are made and broken down.
The main oxygen sensor hypoxia inducible factor (HIF) prolyl hydroxylase 2 (PHD2) is a critical regulator of tissue homeostasis during erythropoiesis, hematopoietic stem cell maintenance, and wound healing. Recent studies point toward a role for the PHD2-erythropoietin (EPO) axis in the modulation of bone remodeling, even though the studies produced conflicting results. Here, we used a number of mouse strains deficient of PHD2 in different cell types to address the role of PHD2 and its downstream targets HIF-1α and HIF-2α in bone remodeling.
View Article and Find Full Text PDFCD4-independent HIV-1 variants can infect coreceptor-expressing cells lacking CD4. The envelope (Env) glycoproteins on these HIV-1 variants expose a coreceptor binding site that overlaps some CD4-induced (CD4i) epitopes. Reports have demonstrated that CD4i antibodies mediate antibody-dependent cellular cytotoxicity (ADCC).
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