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VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFNovel Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.
Genes (Basel)
December 2024
Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.
The advent of next-generation sequencing (NGS) has revolutionized the analysis of genetic data, enabling rapid identification of pathogenic variants in patients with inborn errors of immunity (IEI). Sometimes, the use of NGS-based technologies is associated with challenges in the evaluation of the clinical significance of novel genetic variants. In silico prediction tools, such as SpliceAI neural network, are often used as a first-tier approach for the primary examination of genetic variants of uncertain clinical significance.
View Article and Find Full Text PDFAHNAK2: a potential diagnostic biomarker for pancreatic cancer related to cellular motility.
Sci Rep
January 2025
Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Pancreatic ductal adenocarcinoma lacks suitable biomarkers for early diagnosis of disease. In gene panels developed for early diagnosis of pancreatic cancer, high AHNAK2 mRNA expression was one possible biomarker. In silico analysis of published human sample datasets (n = 177) and ex vivo analysis of human plasma samples (n = 30 PDAC with matched 30 healthy control) suggested AHNAK2 could be a diagnostic biomarker.
View Article and Find Full Text PDFBisecting GlcNAc modification of vesicular GAS6 regulates CAFs activation and breast cancer metastasis.
Cell Commun Signal
January 2025
Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Provincial Key Laboratory of Biotechnology, College of Life Sciences, Northwest University, 229 Taibai North Road, Xi'an, Shaanxi, 710069, P. R. China.
Background: Cancer-associated fibroblasts (CAFs) are a pivotal component of the tumor microenvironment (TME), playing key roles in tumor initiation, metastasis, and chemoresistance. While glycosylation is known to regulate various cellular processes, its impact on CAFs activation remains insufficiently explored.
Methods: We assessed the correlation between bisecting GlcNAc levels and CAFs markers (α-SMA, PDGFRA, PDGFRB) in breast cancer tissues.
Distribution and role of peripheral arterial chemoreceptors in cardio-respiratory control of the south american rattlesnake (Crotalus durissus).
J Exp Biol
January 2025
Department of Zoology, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Peripheral arterial chemoreceptors monitor the levels of arterial blood gases and adjust ventilation and perfusion to meet metabolic demands. These chemoreceptors are present in all vertebrates studied to date but have not been described fully in reptiles other than turtles. The goals of this study were to 1) identify functional chemosensory areas in the South American rattlesnake (Crotalus durissus) 2) determine the neurochemical content of putative chemosensory cells in these areas and 3) determine the role each area plays in ventilatory and cardiovascular control.
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