Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Autor: Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corre

Externí odkaz: https://doaj.org/article/e484f6bf742d4dfaa468f76258820800

Letter to the Editor: How Spermidine and Targeting Eukaryotic Initiator Factor 5A Might Help to Both a Novel Congenital Disorder and Brain Aging

Autor: Víctor Faundes

Publikováno v: Journal of Medicinal Food.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef48a3c9d47adee8b2643f77cb9c1e45
https://doi.org/10.1089/jmf.2022.0078

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Autor: Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler

Publikováno v: American journal of medical genetics. Part AREFERENCES.

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1aad712bb4a2e2b8f25fd39879e43
https://pubmed.ncbi.nlm.nih.gov/36349505

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

Autor: Karen Stals, Sara Cuvertino, Víctor Faundes, Frances Flinter, Lihadh Al-Gazali, Santina Venuto, Vagheesh M. Narasimhan, Laura Southgate, Colin A. Johnson, Eamonn Sheridan, Nisha Nair, Anne Barton, Alice Colyer, Susan J. Kimber, Brian R. Jackson, Adam Stevens, Daniel Weisberg, Natalie Canham, Giuseppe Merla, Gabriella Maria Squeo, Richard C. Trembath, Sally Ann Lynch, Fatima Nadat, Terence Garner, Robert Sellers, Sian Ellard, Muriel Holder-Espinasse, David A. van Heel, Michelle Peckham, Francesca Montanari, Siddharth Banka, Verity L. Hartill, Marco Seri, Jozef Hertecant

Publikováno v: Cuvertino, S, Garner, T, Nair, N, Faundes Gomez, V, Sellers, R, Barton, A, Kimber, S, Banka, S & et al. 2020, ' A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0743-3
Genetics in Medicine

Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb665ed7cd14c5769904b3a899659275
https://doi.org/10.1038/s41436-019-0743-3

Ibero–American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages

Autor: Lluis Serra-Majem, António Raposo, Javier Aranceta-Bartrina, Gregorio Varela-Moreiras, Caomhan Logue, Hugo Laviada, Susana Socolovsky, Carmen Pérez-Rodrigo, Jorge Antonio Aldrete-Velasco, Eduardo Meneses Sierra, Rebeca López-García, Adriana Ortiz-Andrellucchi, Carmen Gómez-Candela, Rodrigo Abreu, Erick Alexanderson, Rolando Joel Álvarez-Álvarez, Ana Luisa Álvarez Falcón, Arturo Anadón, France Bellisle, Ina Alejandra Beristain-Navarrete, Raquel Blasco Redondo, Tommaso Bochicchio, José Camolas, Fernando G. Cardini, Márcio Carocho, Maria do Céu Costa, Adam Drewnowski, Samuel Durán, Víctor Faundes, Roxana Fernández-Condori, Pedro P. García-Luna, Juan Carlos Garnica, Marcela González-Gross, Carlo La Vecchia, Rosaura Leis, Ana María López-Sobaler, Miguel Agustín Madero, Ascensión Marcos, Luis Alfonso Mariscal Ramírez, Danika M. Martyn, Lorenza Mistura, Rafael Moreno Rojas, José Manuel Moreno Villares, José Antonio Niño-Cruz, María Beatriz P. P. Oliveira, Nieves Palacios Gil-Antuñano, Lucía Pérez-Castells, Lourdes Ribas-Barba, Rodolfo Rincón Pedrero, Pilar Riobó, Juan Rivera Medina, Catarina Tinoco de Faria, Roxana Valdés-Ramos, Elsa Vasco, Sandra N. Wac, Guillermo Wakida, Carmina Wanden-Berghe, Luis Xóchihua Díaz, Sergio Zúñiga-Guajardo, Vasiliki Pyrogianni, Sérgio Cunha Velho de Sousa

Publikováno v: Nutrients, Vol 10, Iss 7, p 818 (2018)

International scientific experts in food, nutrition, dietetics, endocrinology, physical activity, paediatrics, nursing, toxicology and public health met in Lisbon on 2–4 July 2017 to develop a Consensus on the use of low- and no-calorie sweeteners

Externí odkaz: https://doaj.org/article/33a8a647ee1e4738aea412b3558459c2