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Items: 9

1.

Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.

Blondelle J, Tallapaka K, Seto JT, Ghassemian M, Clark M, Laitila JM, Bournazos A, Singer JD, Lange S.

JCI Insight. 2019 Apr 16;5. pii: 125665. doi: 10.1172/jci.insight.125665.

2.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

PMID:
29691892
3.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST.

Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.

4.

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.

Woolger N, Bournazos A, Sophocleous RA, Evesson FJ, Lek A, Driemer B, Sutton RB, Cooper ST.

J Biol Chem. 2017 Nov 10;292(45):18577-18591. doi: 10.1074/jbc.M117.790014. Epub 2017 Sep 13.

5.

Exoproteome Analysis of the Seaweed Pathogen Nautella italica R11 Reveals Temperature-Dependent Regulation of RTX-Like Proteins.

Gardiner M, Bournazos AM, Maturana-Martinez C, Zhong L, Egan S.

Front Microbiol. 2017 Jun 29;8:1203. doi: 10.3389/fmicb.2017.01203. eCollection 2017.

6.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

7.

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling.

Piper AK, Ross SE, Redpath GM, Lemckert FA, Woolger N, Bournazos A, Greer PA, Sutton RB, Cooper ST.

Cell Signal. 2017 May;33:30-40. doi: 10.1016/j.cellsig.2017.02.009. Epub 2017 Feb 10.

8.

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

Lemckert FA, Bournazos A, Eckert DM, Kenzler M, Hawkes JM, Butler TL, Ceely B, North KN, Winlaw DS, Egan JR, Cooper ST.

Cardiovasc Res. 2016 May 15;110(2):178-87. doi: 10.1093/cvr/cvw017. Epub 2016 Jan 19.

9.

FDG uptake in axillary lymph nodes after vaccination against pandemic (H1N1).

Panagiotidis E, Exarhos D, Housianakou I, Bournazos A, Datseris I.

Eur Radiol. 2010 May;20(5):1251-3. doi: 10.1007/s00330-010-1719-5. Epub 2010 Feb 26.

PMID:
20186419

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