guest ::
| Home > Publications Database > C9orf72; abnormal RNA expression is the key. |
| Home > Publications Database > C9orf72; abnormal RNA expression is the key. |
| Journal Article (Review Article) | DZNE-2020-03948 |
; ;
2014
Academic Press
Orlando, Fla.
This record in other databases: 
Please use a persistent id in citations: doi:10.1016/j.expneurol.2014.05.020
Abstract: An expanded GGGGCC hexanucleotide repeat in the first intron located between the 1st and 2nd non-coding exons of C9orf72 is the most frequent cause of frontotemporal dementia (FTD) and amyothropic lateral sclerosis (ALS). C9orf72 is a protein with largely unknown function and insight into the disease mechanism caused by the repeat expansion is still in an early stage but increases at an amazing pace. Three main hypotheses are currently being considered to explain the disease process including haploinsuffiency due to the loss of expression from the mutated allele, RNA toxicity caused by accumulation of repeat containing transcripts and toxic protein species generated by the abnormal translation of repeat sequences. We review the current status of genetic, population and functional data and discuss the current insights into the biology of C9orf72 and this repeat expansion disease.
Keyword(s): Amyotrophic Lateral Sclerosis: complications (MeSH) ; Amyotrophic Lateral Sclerosis: genetics (MeSH) ; C9orf72 Protein (MeSH) ; Frontotemporal Dementia: complications (MeSH) ; Frontotemporal Dementia: genetics (MeSH) ; Genetic Predisposition to Disease: genetics (MeSH) ; Humans (MeSH) ; Mutation: genetics (MeSH) ; Proteins: genetics (MeSH) ; RNA: metabolism (MeSH) ; C9orf72 Protein ; C9orf72 protein, human ; Proteins ; RNA
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz
; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection
|
The record appears in these collections: |