Christopher Edward Dennistoun Shaw - Selected Publications#

Vance C, Al-Chalabi A, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, De Jong V, Shaw CE.. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on Chromosome 9p13.2-21.3. Brain 2006; 129:868-76. PMID: 16495328. Citations = 309

Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. TDP-43 Mutations in Familial and Sporadic ALS. Science 2008; 319:1668-72. PMID: 18309045. Citations = 1695

Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Sreedharan J, Hu X, Wright P, Nishimura AL, Ganeslingam J, Tripathi V, Smith B, Ruddy D, Al-Sarraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo J-M, Miller CC, Shaw CE. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science. 2009; 323:1208-11. PMID: 19251628. Citations = 1668

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T, Nishimura AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B, Shaw CE, Ule J. Characterising the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci. 2011; 14:452-8. PMID: 21358640. Citations = 602

Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T, Shaw CE. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS Acta Neuropathol. 2011; 122(6):691-702. PMID: 22101323. Citations = 320

Bilican B, et al. Shaw CE*, Chandran S*. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5803-8. (*denotes joint senior authors) PMID: 22451909. Citations = 221

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, et al… , Shaw CE. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013; 21:102-8 PMID: 22692064 Citations = 145

Smith BN, Ticozzi N, Fallini C, Gkazi AS, et al,. Shaw CE*, Landers JE*. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron. 2014; 84(2):324-31. PMID: 25374358 (*Joint senior authors) Citations = 185

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, et al., Shaw CE. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Sci Transl Med. 2017;9(388). PMID: 28469040 Citations = 43

Lee YB, Baskaran P, Gomez-Deza J, Chen HJ, Nishimura AL, Smith BN, Troakes C, Adachi Y, Stepto A, Petrucelli L, Gallo JM, Hirth F, Rogelj B, Guthrie S, Shaw CE. C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity. Hum Mol Genet. 2020 Sep 4:ddaa181. PMID: 32888026.

Chen HJ, Topp SD, Hui HS, Zacco E, Katarya M, McLoughlin C, King A, Smith BN, Troakes C, Pastore A, Shaw CE. RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy. Brain. 2019; 142(12):3753-3770. PMID: 31605140; PMCID: PMC6885686.