Invest Ophthalmol Vis Sci
September 2024
Purpose: Optical development of the zebrafish eye relies on the movement of the highly refractive lens nucleus from an anterior to a central location in the optical axis during development. We have shown that this mechanism in turn depends on the function of Aquaporin 0a (Aqp0a), a multifunctional and extremely abundant protein in lens fiber cell membranes. Here, we probe the specific cellular functions necessary for rescuing lens nucleus centralization defects in aqp0a-/- null mutants by stable overexpression of an Aqp0 orthologue from a killifish, MIPfun.
View Article and Find Full Text PDFProbl Endokrinol (Mosk)
October 2023
Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM).
View Article and Find Full Text PDFKRas-induced actin-interacting protein (KRAP) has been identified as crucial for the appropriate localization and functioning of the inositol trisphosphate receptors (IPRs) that mediate Ca release from the endoplasmic reticulum. Here, we used siRNA knockdown of KRAP expression in HeLa and HEK293 cells to examine the roles of KRAP in the generation of IP-mediated local Ca puffs and global, cell-wide Ca signals. High resolution Ca imaging revealed that the mean amplitude of puffs was strongly reduced by KRAP knockdown, whereas the Ca flux during openings of individual IPR channels was little affected.
View Article and Find Full Text PDFMacromolecular crowding is crucial for cellular homeostasis. In vivo studies of macromolecular crowding and water dynamics are needed to understand their roles in cellular physiology and fate determination. Macromolecular crowding in the lens is essential for normal optics, and an understanding of its regulation will help prevent cataract and presbyopia.
View Article and Find Full Text PDFBackground: Therapy for type 1 diabetes mellitus (T1DM) is still largely an unsolved clinical problem. Despite the introduction into clinical practice of modern insulin preparations, devices for its administration, as well as continuous monitoring of glucose levels, the goals of therapy are often not achieved. At the same time, the International Diabetes Federation (IDF) notes an increase in the prevalence and incidence of T1DM in children and adolescents in the world.
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