Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU

David B Ascher; Ottavia Spiga; Martina Sekelska; Douglas EV Pires; Andrea Bernini; Monica Tiezzi; Jana Kralovicova; Ivana Borovska; Andrea Soltysova; Birgitta Olsson; Silvia Galderisi; Vittoria Cicaloni; Lakshminarayan Ranganath; Annalisa Santucci; Andrea Zatkova

Journal article

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU

David B Ascher, Ottavia Spiga, Martina Sekelska, Douglas EV Pires, Andrea Bernini, Monica Tiezzi, Jana Kralovicova, Ivana Borovska, Andrea Soltysova, Birgitta Olsson, Silvia Galderisi, Vittoria Cicaloni, Lakshminarayan Ranganath, Annalisa Santucci, Andrea Zatkova

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2019

DOI: 10.1038/s41431-019-0354-0

University of Melbourne Researchers

Douglas Pires Author Computing and Information Systems

David Ascher Author Biochemistry and Molecular Biology

Grants

Awarded by European Commission

Awarded by Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG)

Awarded by Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq), Brazil

Awarded by C.J. Martin Research Fellowship from the National Health and Medical Research Council of Australia

Awarded by Jack Brockhoff Foundation

Funding Acknowledgements

We would like to thank Drs. Jozef Rovensky (Piestany, Slovakia), Kim-Hanh Le Quan Sang (Paris, France), Berardino Porfirio (Florence, Italy), Caterina Aurizi (Rome, Italy), Anastasia Skouma (Athens, Greece), Pallavi Vats (New Delhi, India), and Robert Aquaron (Marseille, France) for DNA samples of AKU patients. The European Commission Seventh Framework Program funding granted in 2012 supported the SONIA1, SONIA2, and SOFIA studies and the AKU research at the Laboratory of genetics (DevelopAKUre, project number: 304985). DBA and DEVP were funded by a Newton Fund RCUK-CONFAP Grant awarded by The Medical Research Council (MRC) and Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG) (MR/M026302/1, APQ-00828-15). DEVP received support from the Instituto Rene Rachou (IRR/FIOCRUZ Minas) and Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) (409780/2016-2), Brazil. DBA was supported also by a C.J. Martin Research Fellowship from the National Health and Medical Research Council of Australia (APP1072476) and the Jack Brockhoff Foundation (JBF 4186, 2016). This work was partially supported by MIUR Progetto Dipartimenti di Eccellenza 2018-2022.