TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.

By I. Mackenzie, Rosa Rademakers, M. Neumann. Lancet Neurology, 2010

987 citations recorded by the source corpus.

Subfields: Biomaterials, Neurology, Pharmacology

View Paper: https://www.semanticscholar.org/paper/11de89bec506da4ee5add7e34472b49c09e26e72

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In Neurology

1. V. Lee
2. John Q. Trojanowski
3. Oliver D. King
4. J. Shorter
5. Aaron Gitler
6. Pegah Masrori
7. P. van Damme
8. John Hardy

In Pharmacology

1. Michael D. Geschwind
2. Michael G. Erkkinen
3. Mee‐Ohk Kim

Citations in the corpus

• Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration (2011, background): “In quick succession, TDP43 proteinopathies were documented in a wide range of other neurodegenerative diseases, including Alzheimer's disease, other tauopathies and Lewy body disorders characterized by α-synuclein inclusion”
• A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2011, background): “…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., 2010).”
• Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases. (2018, background): “For example, bvFTD can be associated with several different pathologies, including tauopathies, TDP-43, and FUS (Ljubenkov and Miller 2016).”
• Exome sequencing reveals VCP mutations as a cause of familial ALS (2010, positive): “…in familial ALS will have to be confirmed in independent cohorts, this mutational frequency is comparable to that reported for TDP-43 and FUS mutations (Kabashi et al., 2008; Chiò et al., 2009; Mackenzie et al., 2010), highlighting the relative significance of this gene as a cause of familial ALS.”
• Amyotrophic lateral sclerosis: a clinical review (2020, background): “Mislocalization to the cytoplasm, leading to nuclear depletion of TDP-43 along with cytoplasmic protein aggregation, is a hallmark of ALS [38].”
• The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease (2012, background): “Additional FUS mutations have now also been connected with sporadic ALS and with FTLD-U (Belzil et al., 2009; Blair et al., 2010; Broustal et al., 2010; Corrado et al., 2010; Da Cruz and Cleveland, 2011; DeJesusHernandez et al., 2010; Drepper et al., 2011; Hewitt et al., 2010; Mackenzie et al., 2010”