The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity

Autor: Elisa Mascolo, Anna Barile, Lorenzo Stufera Mecarelli, Noemi Amoroso, Chiara Merigliano, Arianna Massimi, Isabella Saggio, Torben Hansen, Angela Tramonti, Martino Luigi Di Salvo, Fabrizio Barbetti, Roberto Contestabile, Fiammetta Vernì

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)

Abstract In eukaryotes, pyridoxal kinase (PDXK) acts in vitamin B6 salvage pathway to produce pyridoxal 5′-phosphate (PLP), the active form of the vitamin, which is implicated in numerous crucial metabolic reactions. In Drosophila, mutations in the

Externí odkaz: https://doaj.org/article/98cbd0cfb2e64e8c8b4f5fe2009a0e66

Alterations in Rev-ERBα/BMAL1 ratio and glycated hemoglobin in rotating shift workers: the EuRhythDia study

Autor: Alessio Luzi, Ottavia Porzio, Rainer H. Böger, Arianna Massimi, Rossella Menghini, Andrea Magrini, Nikolaus Marx, Massimo Federici, Juliane Hannemann, Maria Mavilio, Peter J. Grant, Stefano Rizza, Michael Lehrke, Bart Staels, Marta Ballanti

Publikováno v: Acta Diabetologica

Objective To detect premature gluco-metabolic defects among night shift workers with disturbances in circadian rhythms. Design and methods We performed a hypothesis-generating, cross-sectional analysis of anthropometric, metabolic, lipid, and inflamm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cba2c39f09c228f8cbf55086fac5f83
https://doi.org/10.1007/s00592-021-01676-z

The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity

Autor: Anna Barile, Fabrizio Barbetti, Martino L. di Salvo, Isabella Saggio, Arianna Massimi, Chiara Merigliano, Noemi Amoroso, Roberto Contestabile, Fiammetta Vernì, Lorenzo Stufera Mecarelli, Angela Tramonti, Torben Hansen, Elisa Mascolo

Publikováno v: Scientific reports (Nature Publishing Group) 9 (2019). doi:10.1038/s41598-019-50673-4
info:cnr-pdr/source/autori:Mascolo, Elisa; Barile, Anna; Mecarelli, Lorenzo Stufera; Amoroso, Noemi; Merigliano, Chiara; Massimi, Arianna; Saggio, Isabella; Hansen, Torben; Tramonti, Angela; Di Salvo, Martino Luigi; Barbetti, Fabrizio; Contestabile, Roberto; Verni, Fiammetta/titolo:The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity/doi:10.1038%2Fs41598-019-50673-4/rivista:Scientific reports (Nature Publishing Group)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:9
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Mascolo, E, Barile, A, Mecarelli, L S, Amoroso, N, Merigliano, C, Massimi, A, Saggio, I, Hansen, T, Tramonti, A, Di Salvo, M L, Barbetti, F, Contestabile, R & Verni, F 2019, ' The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity ', Scientific Reports, vol. 9 . https://doi.org/10.1038/s41598-019-50673-4
Scientific Reports

In eukaryotes, pyridoxal kinase (PDXK) acts in vitamin B6salvage pathway to produce pyridoxal 5′-phosphate (PLP), the active form of the vitamin, which is implicated in numerous crucial metabolic reactions. In Drosophila, mutations in the dPdxk gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f66d13f40663ee1e60bdedc4aeb4088
https://doi.org/10.1038/s41598-019-50673-4

ESPE Position Statement for Paediatric Endocrinology Subspecialty

Autor: Leslie A. Perry, Jami L. Josefson, William Drake, Fiona Riddoch, Helen L Storr, Arianna Massimi, Carla Bizzarri, Mario Miccoli, Ahmad R. Ramadan, Julian Roos, Luca Federici, Said M. Shawar, Satz Mengensatzproduktion, Martin O. Savage, Amel A. Elfaramawy, Ashley B. Grossman, Nermine H. Mahmoud, John P. Monson, Reema L. Habiby, Robert Listernick, Sandro Loche, Artur Bossowski, Ottavia Porzio, Primoz Kotnik, Rasha T. Hamza, Yuka Nagashima, Lee Martin, Valerio Nobili, Lorenza Bellincampi, Shezan Elahi, Lucy Shapiro, Elena Inzaghi, Yukihiro Hasegawa, Scott Akker, Kentaro Miyai, Silvano Bertelloni, Tadej Battelino, Antonio Cualbu, Stefano Cianfarani, Pamela Fischer-Posovszky, Werner Druck Medien Ag, Beata Sawicka, Martin Wabitsch, Francesco Massart, Janusz Dzięcioł, Hanna Borysewicz-Sańczyk, Joel Charrow, Manal A. Alghamdi, Marco Cappa, Masaki Takagi, Sergio Bernardini, Aya Shimada

Publikováno v: Hormone research in paediatrics. 86(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49bb82bb06862c8f2748b774fd56ef3e
https://pubmed.ncbi.nlm.nih.gov/27379931

Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency

Autor: M. L. Manca Bitti, Ottavia Porzio, Arianna Massimi, Marinella Malaponti, Marco Cappa, D. Vinciguerra, L. Federici, Lucia Ghizzoni, Mauro Maccarrone, Alessandra Vottero, Sergio Bernardini

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the 21-hydroxylase gene (CYP21A2), coding for the enzyme 21-hydroxylase (21-OH). About 95% of the mutations arise from gene conversion between CYP21A2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1548cad3f86b77457c544f2e176d2cc5
http://hdl.handle.net/11697/155804