Current concepts of pathogenesis and therapy of Wiskott-Aldrich syndrome are discussed, along with demonstrating the case history of a patient with the clinical features of this rare disorder. In addition to the known symptoms there was an elevated blood monocyte count together with a decreased total number of lymphocytes. Immunological analysis of the mononuclear cell fraction revealed an imbalance between mature T-cells, "natural-killer"-cells and monocytes.
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The WAVE complex in developmental and adulthood brain disorders.
Exp Mol Med
January 2025
Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, 08854, USA.
Actin polymerization and depolymerization are fundamental cellular processes required not only for the embryonic and postnatal development of the brain but also for the maintenance of neuronal plasticity and survival in the adult and aging brain. The orchestrated organization of actin filaments is controlled by various actin regulatory proteins. Wiskott‒Aldrich syndrome protein-family verprolin-homologous protein (WAVE) members are key activators of ARP2/3 complex-mediated actin polymerization.
View Article and Find Full Text PDFExploring Mycolactone-The Unique Causative Toxin of Buruli Ulcer: Biosynthetic, Synthetic Pathways, Biomarker for Diagnosis, and Therapeutic Potential.
Toxins (Basel)
December 2024
Department of Chemistry, University of Ghana, Legon-Accra P.O. Box LG56, Ghana.
Mycolactone is a complex macrolide toxin produced by , the causative agent of Buruli ulcer. The aim of this paper is to review the chemistry, biosynthetic, and synthetic pathways of mycolactone A/B to help develop an understanding of the mode of action of these polyketides as well as their therapeutic potential. The synthetic work has largely been driven by the desire to afford researchers enough (≥100 mg) of the pure toxins for systematic biological studies toward understanding their very high biological activities.
View Article and Find Full Text PDF[Mechanism of WAVE1 regulation of lipopolysaccharide-induced mitochondrial metabolic abnormalities and inflammatory responses in macrophages].
Zhongguo Dang Dai Er Ke Za Zhi
December 2024
Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Objectives: To explore the mechanism by which Wiskott-Aldrich syndrome protein family verprolin-homologous protein 1 (WAVE1) regulates lipopolysaccharide (LPS)-induced mitochondrial metabolic abnormalities and inflammatory responses in macrophages.
Methods: Macrophage cell lines with overexpressed WAVE1 (mouse BMDM and human THP1 cells) were prepared. The macrophages were treated with LPS (500 ng/mL) to simulate sepsis-induced inflammatory responses.
Gene correction of Wiskott-Aldrich-syndrome iPS cells rescues proplatelet defects and improves platelet size.
Thromb Haemost
December 2024
Pharmacology, Chulalongkorn University, Bangkok, Thailand.
Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder caused by loss-of-function mutations in the WAS gene, responsible for encoding WASP, a key regulator of actin cytoskeleton in all hematopoietic cells except red blood cells. The mechanism underlying microthrombocytopenia, a distinctive feature of WAS and a major contributor to mortality, remains not fully elucidated. In this study, using different gene editing strategies, we corrected mutations in patient-derived WAS-induced pluripotent stem cell lines, generating isogeneic WAS iPSC lines.
View Article and Find Full Text PDFPurpose: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.
Methods: Clinical and family history was collected from case records.
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