Publications by authors named "Nigel W Griffiths"

Background: For patients with high grade serous carcinoma of the ovary (HGSC), survival rates have remained static for the last half century. Despite the presence of tumor mutations and infiltration of immune cells, existing immunotherapies have achieved little success against HGSC. These observations highlight a gap in the understanding of how the immune system functions and interacts within HGSC tumors.

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CACNA1S-related myopathy, due to pathogenic variants in the CACNA1S gene, is a recently described congenital muscle disease. Disease associated variants result in loss of gene expression and/or reduction of Cav1.1 protein stability.

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Article Synopsis
  • Researchers explored how cell behavior and tissue organization are managed during development by studying a signaling pathway called non-canonical Wnt/PCP, which relies on the localization of specific proteins in the cell membrane.
  • They used CRISPR/Cas9 technology to tag the Vangl2 protein with a fluorescent marker in zebrafish, allowing them to observe its role in real-time during embryonic development.
  • Findings revealed that when Vangl2 is absent in certain cell types, it leads to defects in cilia formation and spine issues, highlighting the importance of Vangl2 for normal development and potential implications for understanding diseases.
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The complex functions of cellular membranes, and thus overall cell physiology, depend on the distribution of crucial lipid species. Sac1 is an essential, conserved, ER-localized phosphatase whose substrate, phosphatidylinositol 4-phosphate (PI4P), coordinates secretory trafficking and plasma membrane function. PI4P from multiple pools is delivered to Sac1 by oxysterol-binding protein and related proteins in exchange for other lipids and sterols, which places Sac1 at the intersection of multiple lipid distribution pathways.

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