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Selected Papers from the XXI SPB National Congress of Biochemistry 2021

Aureliano, Manuel; Cancela, Leonor; Costa, Ana R.; Antunes, Célia M.

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XXI SPB CONGRESS BOOK

Antunes, Célia M.; Costa, Ana R.; Palma, Patrícia; Gastalho, Carlos; Marques, Mariana; Galveias, Ana; Cancela, Leonor; Aureliano, Manuel

The University of Évora welcomes YOU at the XXI SPB National Congress of Biochemistry 2020 in 14-16 October 2021 either in person or online! Under challenging conditions, due to the COVID-19 pandemic, we have managed to organize the National Congress of Biochemistry in a hybrid format, where at least 2/3 of the participants will come to Évora in person. With the pandemic under control and we hope to carry out t...


Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of...

Silva, Iris; Conceição, Natércia; Gagnon, Edith; Caiado, Helena; Brown, Jacques P.; Gianfrancesco, Fernando; Michou, Laëtitia; Cancela, Leonor

Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date PDB causing mutations were identified only in the Sequestosome 1 gene at the PDB3 locus. OPTN has been recently associated with PDB, however little is known about the effect of genetic variants in this gene in PDB pathophysiology. By sequencing OPTN in S...


The variation of stygofauna along a gradient of salinization in a coastal aquifer

Shapouri, M.; Cancela, Leonor; Iepure, S.; Stigter, T.; Ribeiro, L.; Silva, A.

We examined the variation of stygofauna composition collected in wells, along a gradient in groundwater salinity/conductivity in a coastal aquifer from southern Portugal. The studied coastal aquifer is considered vulnerable to salinization due to seawater intrusion, caused by overexploitation of the aquifer. Knowing the response of the stygofauna species to present levels of groundwater salinity makes it possib...


Revisiting in vivo staining with alizarin red S - a valuable approach to analys...

Bensimon-Brito, A.; Cardeira Da Silva, João; Dionísio, Gisela; Huysseune, Ann; Cancela, Leonor; Witten, Paul

Background The correct evaluation of mineralization is fundamental for the study of skeletal development, maintenance, and regeneration. Current methods to visualize mineralized tissue in zebrafish rely on: 1) fixed specimens; 2) radiographic and μCT techniques, that are ultimately limited in resolution; or 3) vital stains with fluorochromes that are indistinguishable from the signal of green fluorescent protei...


Matrix Gla Protein expression pattern in the early avian embryo

Correia, Elizabeth; Conceição, Natércia; Cancela, Leonor; Belo, José A.

MGP (Matrix Gla Protein) is an extracellular matrix vitamin K dependent protein previously identified as a physiological inhibitor of calcification and shown to be well conserved among vertebrates during evolution. MGP is involved in other mechanisms such as TGF-beta and BMP activity, and a proposed modulator of cell-matrix interactions. MGP is expressed early in vertebrate development although its role has not...


Transcriptional regulation of gilthead seabream bone morphogenetic protein (BMP...

Marques, Cátia L.; Cancela, Leonor; Laizé, Vincent

Bone morphogenetic protein (BMP) 2 belongs to the transforming growth factor (3 (TGF(3) superfamily of cytokines and growth factors. While it plays important roles in embryo morphogenesis and organogenesis, BMP2 is also critical to bone and cartilage formation. Protein structure and function have been remarkably conserved throughout evolution and BMP2 transcription has been proposed to be tightly regulated, alt...


Matrix Gla protein repression by miR-155 promotes oncogenic signals in breast c...

Tiago, Daniel; Conceição, Natércia; Caiado, Helena; Laizé, Vincent; Cancela, Leonor

MGP is a protein that was initially associated with the inhibition of calcification in skeleton, soft tissues, and arteries, but more recently also implicated in cancer. In breast cancer, higher levels of MGP mRNA were associated with poor prognosis, but since this deregulation was never demonstrated at the protein level, we postulated the involvement of a post-transcriptional regulatory mechanism. In this work...


ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Divisato, Giuseppina; Formicola, Daniela; Esposito, Teresa; Merlotti, Daniela; Pazzaglia, Laura; Del Fattore, Andrea; Siris, Ethel; Orcel, Philippe

Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-af...


Central role of betaine-homocysteine S-methyltransferase 3 in chondral ossifica...

Rosa, Joana; Tiago, Daniel; Marques, Cátia L.; Vijayakumar, Parameswaran; Fonseca, Luís; Cancela, Leonor; Laizé, Vincent

Background: To better understand the complex mechanisms of bone formation it is fundamental that genes central to signaling/regulatory pathways and matrix formation are identified. Cell systems were used to analyze genes differentially expressed during extracellular matrix mineralization and bhmt3, coding for a betaine-homocysteine S-methyltransferase, was shown to be down-regulated in mineralizing gilthead sea...


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