%0 Journal Article
%T The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients
%A Amos J. Simon
%A Atar Lev
%A Baruch Wolach
%A Ronit Gavrieli
%A Ninette Amariglio
%A Ester Rosenthal
%A Ephraim Gazit
%A Eran Eyal
%A Gideon Rechavi
%A Raz Somech
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0013659
%X Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have rarely been described. In other genes containing such mutations, treatments with aminoglycoside types of antibiotics (e.g., gentamicin) were reported to partially correct the premature protein termination, by induction of readthrough mechanism.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0013659