Add medical genetic solutions to RESOLUTE (REsolution)

Leistungen

Report detailing strategy and progress of extending infrastructure and data structures of RESOLUTE to incorporate variant specific data of REsolution as well as documentation of ETL pipelines

Genetic assessment of all SLC family members

The genetic assessment is performed both variant and genebased for all SLC family members

DEP implemented

Document summarizing the actions taken by the beneficiaries to implement the dissemination activities proposed in DEP. We will provide metrics and scoreboards for as many actions as possible.

DEP first revision accepted by the GA

Document summarizing the beneficiaries strategy related to the dissemination and exploitation of the project results

Completion of data-mining workflow

The workflow for datamining is established and applied to all 446 SLCs

Data Management Plan 2

Updated version of DMP at midterm

Data Management Plan

Initial version of DMP

Data Management Plan 3

Report on implementation of DMP throughout the project.

Reasoned compendium of SLC variants

Web resource providing access to curated and interpreted data on human SLC variants based on the results of RESOLUTE and REsolution.

Web portal

Report detailing strategy and progress of extending RESOLUTE web portal with visualizations, reports and an API for the variant specific resources of REsolution.

Veröffentlichungen

Accelerating SLC Transporter Research: Streamlining Knowledge and Validated Tools

Autoren: Tabea Wiedmer, Alvaro Ingles-Prieto, Ulrich Goldmann, Claire M. Steppan, Giulio Superti-Furga, the RESOLUTE, REsolution consortia
Veröffentlicht in: Clinical Pharmacology & Therapeutics, 2022, ISSN 0009-9236
Herausgeber: Nature Publishing Group
DOI: 10.1002/cpt.2639

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8

Autoren: E. Ferrada, T. Wiedmer, W-A. Wang, F. Frommelt, B. Steurer, C. Klimek, S. Lindinger, T. Osthushenrich, A. Garofoli, S. Brocchetti, S. Bradberry, J. Huang, A. MacNamara, L. Scarabottolo, G.F. Ecker, A. Malarstig, G. Superti-Furga
Veröffentlicht in: Journal of Molecular Biology, 2023, ISSN 0022-2836
Herausgeber: Academic Press
DOI: 10.1016/j.jmb.2023.168383

A structure and evolutionary-based classification of solute carriers

Autoren: Evandro Ferrada, Giulio Superti-Furga
Veröffentlicht in: iScience, 2022, ISSN 2589-0042
Herausgeber: Cell Press Elsevier Inc.
DOI: 10.1016/j.isci.2022.105096

Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches

Autoren: Gorostiola González M, Sijben HJ, Dall’ Acqua L, Liu R, IJzerman AP, Heitman LH and van Westen GJP
Veröffentlicht in: Frontiers in Molecular Biosciences, 2023, ISSN 2296-889X
Herausgeber: Frontiers Media S.A.
DOI: 10.3389/fmolb.2023.1286673

Data Management Plan 2

Autoren: Andrea Garofoli; Robert Stanton; Tabea Wiedmer; Ulrich Goldmann; Barbara Steurer; Evandro Ferrada; Alvaro Ingles-Prieto
Veröffentlicht in: 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.7319234

Dissemination and exploitation plan (DEP) - first proposal

Autoren: Alvaro Ingles-Prieto; Tabea Wiedmer
Veröffentlicht in: 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.7319242

Completion of data-mining workflow

Autoren: Anders Malarstig; Aidan MacNamara; Tanja Osthushenrich; Evandro Ferrada
Veröffentlicht in: 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.7319135

Data modelling

Autoren: Andrea Garofoli; Robert Stanton; Ulrich Goldmann
Veröffentlicht in: 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.10411258

Genetic assessment of all SLC family members

Autoren: Anders Malarstig; Aidan MacNamara; Tanja Osthushenrich; Evandro Ferrada
Veröffentlicht in: Ausgabe 1, 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.7319210

Data Management Plan

Autoren: Andrea Garofoli; Robert Stanton; Tabea Wiedmer; Ulrich Goldmann; Barbara Steurer; Evandro Ferrada; Alvaro Ingles-Prieto
Veröffentlicht in: 2022
Herausgeber: n/a
DOI: 10.5281/zenodo.7319222

Leistungen

Veröffentlichungen

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