A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
By I. Gijselinck, Tim van Langenhove, J. van der Zee, K. Sleegers, S. Philtjens, G. Kleinberger, J. Janssens, K. Bettens, Caroline Van Cauwenberghe, S. Pereson and 25 more. Lancet Neurology, 2012
657 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology
View Paper: https://www.semanticscholar.org/paper/2896d45abb7fc99b28aed8414de2dad7ca0e3fdb
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In Cellular and Molecular Neuroscience
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Citations in the corpus
- RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013, neutral): “To study the pathology of the C9ORF72 repeat expansion, we isolated fibroblasts from unrelated C9ORF72 ALS patients whose repeat expansion was confirmed by repeat-primed PCR (Renton et al., 2011) and Southern blot analysis (Figures 1A and 1B; for demographic information on all cell lines see Table S”
- Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, neutral): “Rather than the expected amino acid substitutions in a protein coding region, a large GGGGCC hexanucleotide repeat expansion ( 700–1,600 copies) within a noncoding region of a gene (C9ORF72) was found to be causative (DeJesus-Hernandez et al., 2011; Gijselinck et al., 2012; Renton et al., 2011).”
- A comprehensive review of amyotrophic lateral sclerosis (2015, background): “[73,239,308] The additional genes that are known to cause FALS include: TARDBP, encodes TAR DNAbinding protein 43 (TDP-43); FUS, which codes for fusion in sarcoma; ANG, which codes for angiogenin, ribonuclease, and the RNAase A family 5; OPTN, which codes for optineurin; and C9orf72.[23,49,56,100,13”
- Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. (2013, neutral): “While the mechanisms of disease of c9FTD/ALS remain unknown, several groups have shown that mRNA levels of at least one C9ORF72 transcript are decreased in c9FTD/ALS (DeJesus-Hernandez et al., 2011; Gijselinck et al., 2012; Renton et al., 2011), suggesting a potential loss of function.”
- RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia (2013, background): “Protein loss-of-function has been proposed to underlie C9ORF72-driven ALS/FTD because the expansion mutation leads to decreased levels of variant 1 transcripts and potential decreases in C9ORF72 protein expression (1, 5).”