Cargando…
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
INTRODUCTION: The most common forms of amyotrophic lateral sclerosis and frontotemporal dementia are caused by a large GGGGCC repeat expansion in the first intron of the C9orf72 gene. The repeat-containing intron should be degraded after being spliced out, however GGGGCC repeat-containing RNA specie...
Autores principales: | Niblock, Michael, Smith, Bradley N., Lee, Youn-Bok, Sardone, Valentina, Topp, Simon, Troakes, Claire, Al-Sarraj, Safa, Leblond, Claire S., Dion, Patrick A., Rouleau, Guy A., Shaw, Christopher E., Gallo, Jean-Marc |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766718/ https://www.ncbi.nlm.nih.gov/pubmed/26916632 http://dx.doi.org/10.1186/s40478-016-0289-4 |
Ejemplares similares
-
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
por: Ross, Jay P., et al.
Publicado: (2019) -
Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
por: Fong, Jamie C, et al.
Publicado: (2012) -
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
por: Lee, Youn-Bok, et al.
Publicado: (2013) -
Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD
por: Zhou, Bo, et al.
Publicado: (2015) -
Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration
por: Gomez-Deza, Jorge, et al.
Publicado: (2015)