DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

By Yingzhang Chen, C. Bennett, H. M. Huynh, I. Blair, I. Puls, J. Irobi, Ines Dierick, A. Abel, M. Kennerson, B. A. Rabin and 9 more. American Journal of Human Genetics, 2004

840 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Neurology

View Paper: https://www.semanticscholar.org/paper/e5e62f70c63c38c12182acbed2562a1306ca454b

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Citations in the corpus

A comprehensive review of amyotrophic lateral sclerosis (2015, result): “, ciliary neurotrophic factor, leukemia inhibitory factor, and vascular endothelial growth factor 2) related to exercise that have been recognized as possible ALS risks factors.[47] Moreover, some studies have obtained inconsistent results in regards to high ALS risk among athletes, thus invalidatin”
Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination (2011, background): “8 kD widely expressed protein containing an N-terminal putative protein-protein interaction domain and a C-terminal DEAD-box helicase domain, followed by a nuclear localization signal (NLS) (Chen et al., 2004).”
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (2004, background): “is a rare juvenile autosomal dominant disorder with slow progression, pyramidal signs, and severe muscle wasting, associated with mutation of the sentaxin gene (SETX [MIM 608465]) (Chen et al. 2004).”
The DNA Damage Response: Making it safe to play with knives (2010, background): “…22, 2010 ª2010 Elsevier Inc. 181 182 Molecular Cell 40, October 22, 2010 ª2010 Elsevier Inc. recruitment of DNA repair and chromatin modifying complexes, such as polycomb and histone deacetylase (HDAC) complexes, at DNA damage sites (Polo et al., 2010; Schreiber et al., 2006; Chou et al., 2010).”
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “Altogether, with additional ALS-linked mutations in the RNAbinding proteins angiogenin (Greenway et al., 2006), senataxin (Chen et al., 2004), and ataxin-2 (Elden et al., 2010), disruption in RNA homeostasis seems highly likely to play a central role in ALS pathogenesis.”