A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.

DNA repair is essential to maintain genome integrity, and genes with roles in DNA repair are frequently mutated in a variety of human diseases. Repair via homologous recombination typically restores the original DNA sequence without introducing mutations, and a number of genes that are required for...

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Main Authors: Mikołaj Słabicki, Mirko Theis, Dragomir B Krastev, Sergey Samsonov, Emeline Mundwiller, Magno Junqueira, Maciej Paszkowski-Rogacz, Joan Teyra, Anne-Kristin Heninger, Ina Poser, Fabienne Prieur, Jérémy Truchetto, Christian Confavreux, Cécilia Marelli, Alexandra Durr, Jean Philippe Camdessanche, Alexis Brice, Andrej Shevchenko, M Teresa Pisabarro, Giovanni Stevanin, Frank Buchholz
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-06-01
Series:PLoS Biology
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20613862/pdf/?tool=EBI