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Chris Shaw Group

Chris Shaw publications

Selected peer reviewed publications

Smith et al.  Shaw CE. Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis 2017. Sci Trans Med 2017;9. PMID: 28469040

Thomas-Jinu S, et al.  Shaw CE, Houart C. Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development. Neuron. 2017;94:322-336. PMID:28392072

Kenna KP, et al…, Shaw CE, van den Berg LH, Veldink JH, Landers JE. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet. 2016 Sep;48(9):1037-42. PMID: 27455347

Chen HJ, Mitchell JC, Novoselov S, Miller J, Nishimura AL, Scotter EL, Vance CA, Cheetham ME, Shaw CE. The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis. Brain. 2016;139:1417-32. PMID:28281833

Gomez-Deza J, Lee YB, Troakes C, Nolan M, Al-Sarraj S, Gallo JM, Shaw CE. Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration. Acta Neuropathol Commun. 2015; 3:38. PMID: 26108573

Mitchell JC, et al. Shaw CE. Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS. Acta Neuropathol Commun. 2015; 3:36. PMID: 26108367

Darovic S, Prpar Mihevc S, Župunski V, Gunčar G, Štalekar M, Lee YB, Shaw CE, Rogelj B. Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import. J Cell Sci. 2015; 128:4151-9. PMID: 26403203

Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE. Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species J Cell Sci. 2014; 127:1263-78. PMID: 24424030

Smith BN, et al.  Shaw CE*, Landers JE*. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron. 2014; 84:324-31. (*Joint senior authors)

Lee Y-B, et al., Shaw CE Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic. Cell Report 2013;5:1178-86. PMID:25374358

Vance C, et al.,. Shaw CE. ALS mutant FUS disrupts nuclear localisation and sequesters wild-type FUS within cytoplasmic stress granules. Hum Mol Genet. 2013 22:2676-88. PMID:23474818

Mitchell JC, McGoldrickP, Vance C, HortabagyiT SreedharanJ, RogeljB, Tudor EL, Smith BN, Klasen C, Miller CCJ, Cooper JD, Greensmith L, Shaw CE. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age and dose-dependent fashion Acta Neuropathologica, 2013 125: 273-288. PMID:22961620

Smith BN,  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

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 USA. 2012;109:5803-8. PMID:22451909

De Vos KJ, Mórotz GM, Stoica R, Tudor EL, Lau KF, Ackerley S, Warley A, Shaw CE, Miller CC. VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. Hum Mol Genet. 2012; 21:1299-311. PMID:22131369

Rogelj B,  et al. …Shaw CE*, Ule J*. Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Science Reports. 2012;2:603. (*joint senior authors) PMID:22934129

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; 122:691-702. PMID:22101323

Tollervey JR, et al., Shaw CE, Ule J. Characterising the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci. 2011; 14:452-8. PMID: 21358640.

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, ShawCE. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science. 2009;323:1208-11. PMID:19251628

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

 

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