Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marina Blenski"'
Autor:
Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c61821bbaf3725327b8e7a6b1b67fc12
https://doi.org/10.1002/humu.23001
https://doi.org/10.1002/humu.23001
Autor:
David F. Crawford, Svein Isungset Støve, Marina Blenski, John W. Belmont, Klaas J. Wierenga, Thomas Arnesen, Asbjørg Stray-Pedersen, Gabriela Purcarin, Jeffrey J. Kim, Nina McTiernan, Rene Y. McNall-Knapp, Shalini N. Jhangiani, Line M. Myklebust, James R. Lupski, Alexandrea Wadley, Zeynep Coban Akdemir
Publikováno v:
European journal of human genetics : EJHG. 26(9)
The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f7980caae3cd22271ca485d2e3dc00
https://pubmed.ncbi.nlm.nih.gov/29748569
https://pubmed.ncbi.nlm.nih.gov/29748569
Autor:
Catherine McGorrian, Marina Blenski, Joseph Galvin, Francesca Brett, Aimee M Dunne, Svein Isungset Støve, Jillian P. Casey, Mary D. King, Thomas Arnesen, Sean Ennis, Sally Ann Lynch
Publikováno v:
Scientific Reports
We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50b175188c46081d8fc6f93c5db59dd
http://europepmc.org/articles/PMC4629191
http://europepmc.org/articles/PMC4629191