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...
Guardado en:
Autores principales: | 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 |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2010
|
Materias: | |
Acceso en línea: | https://doaj.org/article/f5f2a05ab4b94ace913261bc60a1e2dd |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
por: Liena E. O. Elsayed, et al.
Publicado: (2021) -
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
por: Chong Kun Cheon, et al.
Publicado: (2017) -
ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonia Sonda, et al.
Publicado: (2021) -
Hereditary spastic paraplegia initially diagnosed as cerebral palsy
por: Oksana Suchowersky, et al.
Publicado: (2021) -
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
por: Matias Wagner, et al.
Publicado: (2019)