TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

By V. V. Van Deerlin, J. Leverenz, L. Bekris, T. Bird, Wuxing Yuan, L. Elman, Dana Clay, E. Wood, A. Chen-Plotkin, M. Martinez-Lage and 13 more. Lancet Neurology, 2008

754 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/744369f6c317e6ccc148ba2f0ab31acd73c32dce

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In Cellular and Molecular Neuroscience

1. D. Cleveland

In Genetics

1. D. Cleveland
2. M. Polymenidou

In Neurology

1. M. Polymenidou
2. D. Cleveland
3. Shuo-Chien Ling

Citations in the corpus

• Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “…of Function in Disease Loss of nuclear function of TDP-43 is clearly a component of the disease process, as nuclear clearing accompanied by cytoplasmic accumulation of TDP-43 has been universally reported in surviving neurons in patients with TDP-43 mutant-mediated ALS (Van Deerlin et al., 2008).”
• Structural determinants of the cellular localization and shuttling of TDP-43 (2008, neutral): “…ur na l o f C el l S ci en ce region and disease is underlined by increasing reports of mutations within this domain that are associated with familiar and sporadic cases of ALS and FTLD (Kabashi et al., 2008; Sreedharan et al., 2008; Van Deerlin et al., 2008; Yokoseki et al., 2008).”
• TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. (2010, background): “TDP-43 inclusions are not restricted to motor neurons but can be widespread in brain in ALS patients with or without dementia (16,17,31,41,42).”
• Rethinking ALS: the FUS about TDP-43. (2009, background): “TDP-43 is partly cleared from the nuclei of neurons containing cytoplasmic aggregates (Figure S1A available online) (e.g., Neumann et al., 2006; Van Deerlin et al., 2008) supporting the notion that pathogenesis of ALS in these cases may be driven, at least in part, by loss of normal TDP-43 function…”