https://ria.asturias.es/RIA/handle/123456789/8705 2025-12-20T11:37:08Z https://ria.asturias.es/RIA/handle/123456789/8729 Title: X-linked hypophosphatemia and growth Authors: Fuente, Rocío; Gil Peña, Helena; Claramunt Taberner, Débora; Hernádez, Olaya; Fernández Iglesias, Ángela; Alonso Durán, Laura; Rodríguez Rubio, Enrique; Santos, Fernando Abstract: X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies. Description: PDF formato impresión 2017-01-27T00:00:00Z https://ria.asturias.es/RIA/handle/123456789/14726 Title: The secretome atlas of two mouse models of progeria Authors: Quintana-Torres, Diego; Valle-Cao, Alejandra; Bousquets-Muñoz, Pablo; Freitas-Rodríguez, Sandra; Rodríguez, Francisco; Lucía, Alejandro; López-Otín, Carlos; López-Soto, Alejandro; Rodríguez Folgueras, Alicia Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease caused by nuclear envelope alterations that lead to accelerated aging and premature death. Several studies have linked health and longevity to cell-extrinsic mechanisms, highlighting the relevance of circulating factors in the aging process as well as in age-related diseases. We performed a global plasma proteomic analysis in two preclinical progeroid models (LmnaG609G/G609G and Zmpste24−/− mice) using aptamer-based proteomic technology. Pathways related to the extracellular matrix, growth factor response and calcium ion binding were among the most enriched in the proteomic signature of progeroid samples compared to controls. Despite the global downregulation trend found in the plasma proteome of progeroid mice, several proteins associated with cardiovascular disease, the main cause of death in HGPS, were upregulated. We also developed a chronological age predictor using plasma proteome data from a cohort of healthy mice (aged 1–30 months), that reported an age acceleration when applied to progeroid mice, indicating that these mice exhibit an “old” plasma proteomic signature. Furthermore, when compared to naturally-aged mice, a great proportion of differentially expressed circulating proteins in progeroid mice were specific to premature aging, highlighting secretome-associated differences between physiological and accelerated aging. This is the first large-scale profiling of the plasma proteome in progeroid mice, which provides an extensive list of candidate circulating plasma proteins as potential biomarkers and/or therapeutic targets for further exploration and hypothesis generation in the context of both physiological and premature aging. 2023-10-16T00:00:00Z https://ria.asturias.es/RIA/handle/123456789/12485 Title: Oenological Impact of the Hanseniaspora/Kloeckera Yeast Genus on Wines—A Review 2018-09-10T00:00:00Z https://ria.asturias.es/RIA/handle/123456789/10965 Title: Fibulin-5 downregulates Ki-67 and inhibits proliferation and invasion of breast cancer cells Authors: Mohamedi Munárriz, Yamina; Fontanil, Tania; Solares, Laura; García Suárez, Olivia; García Piqueras, Jorge; Vega, Jose Antonio; Cal, Santiago; Obaya, Álavaro Jesús Abstract: Fibulins not only function as molecular bridges within the cellular microenvironment but also influence cell behavior. Thus, fibulins may contribute to create a permissive microenvironment for tumor growth but can also stimulate different mechanisms that may impede tumor progression. This is the case with Fibulin-5, which has been shown to display both tumor-promoting and tumor-protective functions by mechanisms that are not totally defined. We show new evidence on the tumor-protective functions displayed by Fibulin-5 in MCF-7, T47D and MDA-MB-231 breast cancer cells including the inhibition of invasion and proliferation capacity and hampering the ability to form mammospheres. Reduction in the level of phosphorylation of Ser residues involved in the nuclear translocation of β-catenin may underlie these antitumor effects. We also found that Fibulin-5 reduces the level of expression of Ki-67, a nuclear protein associated with cell proliferation. Moreover, reduction in Fibulin-5 expression corresponds to an increase of Ki-67 detection in breast tissue samples. Overall, our data provide new insights into the influence of Fibulin-5 to modify breast cancer cell behavior and contribute to better understand the connections between fibulins and cancer. Description: In the present study, we have employed well-known human breast cancer cell models to overexpress Fibulin-5 and to investigate changes in cell phenotype using different cell-based approaches including cell proliferation, migration and invasion assays, as well as mammosphere formation. Overall, our data suggest that Fibulin-5 induces antitumor effects by suppression of β-catenin phosphorylation. Immunohistochemical analysis of tumor samples of breast cancer patients indicated that a high Fibulin-5 expression level is concomitant with a low expression of the proliferative marker Ki-67, which suggest that Fibulin-5 may influence breast cancer cell proliferation. 2016-02-17T00:00:00Z