Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Publikováno v: Nature Communications. 10(1)

N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal modification essential for translational accuracy and efficiency. The t6A pathway uses two sequentially acting enzymes, YRDC and OSGEP, the latter being a subunit of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::c5b42fe64b8325c2625aeae04e986785
https://doi.org/10.1038/s41467-019-11951-x

The Legionella pneumophila Methyltransferase RomA Methylates Also Non-histone Proteins during Infection

Autor: Srikanth Kudithipudi, Alexander Bröhm, Monica Rolando, Carmen Buchrieser, Sara Weirich, Albert Jeltsch, Maren Kirstin Schuhmacher

Publikováno v: Journal of Molecular Biology
Journal of Molecular Biology, 2018, 430 (13), pp.1912-1925. ⟨10.1016/j.jmb.2018.04.032⟩
Journal of Molecular Biology, Elsevier, 2018, 430 (13), pp.1912-1925. ⟨10.1016/j.jmb.2018.04.032⟩

International audience; RomA is a SET-domain containing protein lysine methyltransferase encoded by the Gram-negative bacterium Legionella pneumophila. It is exported into human host cells during infection and has been previously shown to methylate h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2594e0ca3a9a8953e77d845282d55d
https://hal-pasteur.archives-ouvertes.fr/pasteur-02869016

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Autor: Gabriela Sánchez-Andrade, Susan E. Holder, Jeremy F. McRae, Stephen J. Sawiak, Song-Choon Lee, Pelagia Deriziotis, Shelagh Joss, Tjitske Kleefstra, Julien Thevenon, Jenny Morton, Simon E. Fisher, Cristina Dias, Mathew E. Hurles, Sara Busquets Estruch, Kelly Mellul, Claire L. S. Turner, Darren W. Logan, Sarah A. Graham, Rui Santos, Ximena Ibarra-Soria, Laurence Faivre, Jane A. Hurst, Pentao Liu

Publikováno v: The American Journal of Human Genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.253-274. ⟨10.1016/j.ajhg.2016.05.030⟩
American Journal of Human Genetics, 99, 2, pp. 253-274
American Journal of Human Genetics, 99, 253-274
Dias, C, Estruch, S B, Graham, S A, McRae, J, Sawiak, S J, Hurst, J A, Joss, S K, Holder, S E, Morton, J E V, Turner, C, Thevenon, J, Mellul, K, Sánchez-Andrade, G, Ibarra-Soria, X, Deriziotis, P, Santos, R F, Lee, S-C, Faivre, L, Kleefstra, T, Liu, P, Hurles, M E & Fisher, S E & Logan, D W 2016, ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ', American Journal of Human Genetics, vol. 99, no. 2, pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030

Contains fulltext : 167380.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2b0c5321656ea6915dd869874775e1
https://pubmed.ncbi.nlm.nih.gov/27453576

Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination

Autor: Yan Coulombe, Rémi Buisson, Bing Xia, Hong Cai, Anne-Marie Dion-Côté, Jean-Yves Masson, Hélène Launay, Andrzej Stasiak, Alicja Z. Stasiak

Publikováno v: Nature Structural and Molecular Biology, vol. 17, no. 10, pp. 1247-1254

Inherited mutations in human PALB2 are associated with a predisposition to breast and pancreatic cancers. The tumor-suppressing capability of PALB2 is thought to be based on its ability to enable BRCA2 function in homologous recombination. However, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6d82471f862b9a818c71d3d15f8246
https://doi.org/10.1038/nsmb.1915

The TP53INP2 Protein Is Required for Autophagy in Mammalian Cells

Autor: Guillermo Velasco, Jean-Charles Dagorn, Marie-Josèphe Pébusque, J. Tardivel-Lacombe, Maria I. Vaccaro, Pierre Pontarotti, Cendrine Archange, Jonathan Nowak, Juan L. Iovanna

Publikováno v: Molecular Biology of the Cell
Molecular Biology of the Cell, American Society for Cell Biology, 2009, 20 (3), pp.870-81. ⟨10.1091/mbc.E08-07-0671⟩
Molecular Biology of the Cell, 2009, 20 (3), pp.870-81. ⟨10.1091/mbc.E08-07-0671⟩

International audience; Using a bioinformatic approach, we identified a TP53INP1-related gene encoding a protein with 30% identity with tumor protein 53-induced nuclear protein 1 (TP53INP1), which was named TP53INP2. TP53INP1 and TP53INP2 sequences w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c5f75ef18d0e83a29aa83ecbd3ce6f
https://doi.org/10.1091/mbc.e08-07-0671