TDP‐43 A315T mutation in familial motor neuron disease

By M. Gitcho, R. Baloh, S. Chakraverty, K. Mayo, J. Norton, D. Levitch, K. Hatanpaa, C. White, Eileen Bigio, R. Caselli and 7 more. Annals of Neurology, 2008

639 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/0b368d56d13626a21757fa193314aeab5c2013a2

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. J. Götz
2. D. Cleveland
3. T. Miller
4. Christian Haass
5. L. Ittner
6. D. Dormann

In Genetics

1. D. Cleveland

In Neurology

1. D. Cleveland
2. J. Götz
3. Christian Haass
4. L. Ittner
5. D. Dormann

Citations in the corpus

• Rethinking ALS: the FUS about TDP-43. (2009, background): “Starting in early 2008, dominant mutations in the TARDBP gene were reported by several groups as a primary cause of ALS (e.g., Corrado et al., 2009; Daoud et al., 2009; Gitcho et al., 2008; Kabashi et al., 2008; Sreedharan et al., 2008; Van Deerlin et al., 2008; for review see Banks et al., 2008).”
• TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration (2009, background): “Results To investigate the mechanism by which TDP-43 mutations lead to neurodegeneration, we generated transgenic mice expressing a human TDP-43 construct containing the A315T mutation seen in familial ALS patients (8), under the control of the mouse prion protein (Prp) promoter (Fig.”
• Animal models of Alzheimer's disease and frontotemporal dementia (2008, background): “Mutations in the gene encoding TDP-43, TARDBP , in both familial and sporadic cases of ALS have since been identifie”
• ALS‐associated fused in sarcoma (FUS) mutations disrupt Transportin‐mediated nuclear import (2010, background): “Of these, about 5–10% are caused by mutations in the TAR DNA-binding protein 43 (TDP-43) gene on chromosome 1 (Gitcho et al, 2008; Kabashi et al, 2008; Mackenzie and Rademakers, 2008; Sreedharan et al, 2008) or the FUS gene on chromosome 16 (Kwiatkowski et al, 2009; Vance et al, 2009).”