Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

By T. Kwiatkowski, D. A. Bosco, A. L. Leclerc, E. Tamrazian, C. Vanderburg, C. Russ, A. Davis, J. Gilchrist, E. Kasarskis, T. Munsat and 16 more. Science, 2009

2,224 citations recorded by the source corpus.

Subfields: Genetics, Neurology, Organic Chemistry

View Paper: https://www.semanticscholar.org/paper/ede8bd6cd3cc4ba450dbd34bbad5886ad011de0d

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Citations in the corpus

Axonal transport of TDP-43 mRNA granules in neurons is impaired by ALS-causing mutations (2014, positive): “The identification of mutations in related RNA processing proteins has focused interest on perturbed RNA metabolism as a potential common defect underlying neurodegenerative diseases (Kim et al., 2013; Kwiatkowski et al., 2009; Ramaswami et al., 2013), yet the role(s) of TDP-43 in RNA metabolism is ”
Sequence determinants of protein phase behavior from a coarse-grained model (2017, positive): “Mutations of FUS have been shown to be highly relevant to the pathogenesis of ALS [48, 49] and display the ability to alter the kinetics of both droplet formation and aggregation into fibrils [15].”
Exome sequencing reveals VCP mutations as a cause of familial ALS (2010, positive): “Mutations of ANG, DCTN1, FUS, OPTN, SETX, SOD1, and TDP-43 were similarly excluded in cases carrying VCP mutations.”
Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue (2010, background): “Mutations in other putative RNA binding proteins, such as FUS, ataxin-2, SMN and FMRP, are associated with familial ALS, spinocerebellar ataxia, spinal muscular atrophy and fragile X syndrome, respectively [24,25].”
Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis (2011, positive): “…mutations in TDP-43 (encoded by TARDBP) (Kabashi et al., 2008; Sreedharan et al., 2008) and the related RNA-binding protein fused in sarcoma (FUS) (Kwiatkowski et al., 2009; Vance et al., 2009) in $5% of familial ALS patients has significantly shifted the focus of ALS research and implicated…”
Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies. (2012, background): “There is no question that these LCdomains can enter into irreversible fibrous aggregates, just as happens with the LC domains housed within many gene products associated with neurodegenerative disease (Koyano et al., 1999; Kwiatkowski et al., 2009; Neumann et al., 2006; Vance et al., 2009).”
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease (2012, background): “Disturbingly, however, the misfolding and aberrant homeostasis of these RNA-binding proteins is beginning to emerge in connection with a series of devastating and presently incurable neurodegenerative disorders (Couthouis et al., 2011; Kwiatkowski et al., 2009; Neumann et al., 2006; Neumann et al., ”
Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. (2010, background): “pathogenesis of ALS, with the discovery of mutations in two genes with RNA/DNA-binding functions, TDP-43 [11,12] and FUS/TLS [9,10],”
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2011, background): “Our data indicate that the repeat expansion is more than twice as common as mutations in the SOD1 gene as a cause of familial ALS (Chiò et al., 2008) and more than three times as common as TARDBP, FUS, OPTN, and VCP mutations combined (Johnson et al., 2010; Mackenzie et al., 2010; Maruyama et al., ”
Rethinking ALS: the FUS about TDP-43. (2009, methodology): “Except for the recessive mutation in the family of Cape Verdean origin, the inheritance pattern is dominant (albeit with an incomplete penetrance reported for the R521G mutation) (Kwiatkowski et al., 2009).”