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Variant sequences Identification in human genomes and Their Assignment as true causative mutations for LVNC - VITAL

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Publications

UALGORITMO, a new instrument of the University of Algarve for scientific outreach
Publication . Bragança, José; Figueiredo, Sónia; Rego, Carla Alexandra; dos Reis Conceição, Filomena; Jesus, Saúl Neves de
Researchers at Universities generate and convey the knowledge acquired through communications in specialized (inter)national journals and congresses. An effort to share the scientific achievements with the general public is extremely important. For this purpose, we have launched the UALGORITMO, a journal freely accessible online, written in lay Portuguese language by Researchers of the University of the Algarve, to summarize recent communications published in peer reviewed journals. After submission, the manuscripts are revised by High Schools Students of the Algarve, under the guidance of a schoolteacher, for further simplification of the language and general improvement of the manuscript and figures. The revised manuscripts by the authors are edited and published, with an acknowledgment and a presentation of the reviewers at the end of each article. To maximize the outreach, the articles include a summarized biography of the authors, and links to their research centers and teaching courses. We believe that the UALGORITMO is a valuable instrument to promote scientific literacy and culture amongst all communities.
Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy
Publication . Calado, Sofia; Bento, Dina; Marques, Nuno; Bragança, José
Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcriptional regulators, ion channels, sarcomeric and mitochondrial proteins, approximately 60% of LVNC patients do not present these genetic alterations. Here, we describe an induced pluripotent stem cell (hiPSC) line (UALGi002-A) originated from a LVNC female patient (LVNC-hiPSC) who does not present any previously known mutations associated to LVNC. The LVNC-hiPSC exhibited full pluripotency and differentiation potential and retained a normal karyotype after reprogramming. Moreover, the LVNC-hiPSC differentiated into contracting cardiomyocytes. This cellular model will be useful to study the molecular, genetic and functional aspects of LVNC in vitro.
FOXO transcription factors as therapeutic targets in human diseases
Publication . Orea-Soufi, Alba; Paik, Jihye; Bragança, José; Donlon, Timothy A.; Willcox, Bradley J.; Link, Wolfgang
Forkhead box (FOX)O proteins are transcription factors (TFs) with four members in mammals designated FOXO1, FOXO3, FOXO4, and FOXO6. FOXO TFs play a pivotal role in the cellular adaptation to diverse stress conditions. FOXO proteins act as context-dependent tumor suppressors and their dysregulation has been implicated in several age-related diseases. FOXO3 has been established as a major gene for human longevity. Accordingly, FOXO proteins have emerged as potential targets for the therapeutic development of drugs and geroprotectors. In this review, we provide an overview of the most recent advances in our under-standing of FOXO regulation and function in various pathological conditions. We discuss strategies targeting FOXOs directly or by the modulation of upstream regulators, shedding light on the most promising intervention points. We also reveal the most relevant clinical indications and discuss the potential, trends, and challenges of modulating FOXO activity for therapeutic purposes.

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Funding agency

Fundação para a Ciência e a Tecnologia

Funding programme

9471 - RIDTI

Funding Award Number

PTDC/BTM-TEC/28044/2017

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