Cooper ST - Search Results

1

RNA variant assessment using transactivation and transdifferentiation.

Nicolas-Martinez EC, Robinson O, Pflueger C, Gardner A, Corbett MA, Ritchie T, Kroes T, van Eyk CL, Scheffer IE, Hildebrand MS, Barnier JV, Rousseau V, Genevieve D, Haushalter V, Piton A, Denommé-Pichon AS, Bruel AL, Nambot S, Isidor B, Grigg J, Gonzalez T, Ghedia S, Marchant RG, Bournazos A, Wong WK, Webster RI, Evesson FJ, Jones KJ; PERSYST Investigator Team; Cooper ST, Lister R, Gecz J, Jolly LA. Nicolas-Martinez EC, et al. Among authors: cooper st. Am J Hum Genet. 2024 Aug 8;111(8):1673-1699. doi: 10.1016/j.ajhg.2024.06.018. Epub 2024 Jul 30. Am J Hum Genet. 2024. PMID: 39084224 Free PMC article.

2

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Compton AG, et al. Among authors: cooper st. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026398 Free PMC article.

3

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway.

Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST. Evesson FJ, et al. Among authors: cooper st. J Biol Chem. 2010 Sep 10;285(37):28529-39. doi: 10.1074/jbc.M110.111120. Epub 2010 Jul 1. J Biol Chem. 2010. PMID: 20595382 Free PMC article.

4

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. Riley LG, et al. Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001. Am J Hum Genet. 2010. PMID: 20598274 Free PMC article.

5

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST. Waddell LB, et al. Among authors: cooper st. J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0. J Neuropathol Exp Neurol. 2011. PMID: 21412170 Free PMC article.

6

Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.

Lek A, Evesson FJ, Sutton RB, North KN, Cooper ST. Lek A, et al. Among authors: cooper st. Traffic. 2012 Feb;13(2):185-94. doi: 10.1111/j.1600-0854.2011.01267.x. Epub 2011 Sep 6. Traffic. 2012. PMID: 21838746 Free article. Review.

7

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST. Lek A, et al. Among authors: cooper st. J Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013. J Neurosci. 2013. PMID: 23516275 Free PMC article.

8

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ. Miller DK, et al. Among authors: cooper st. PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014. PLoS One. 2014. PMID: 25118196 Free PMC article.

9

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: cooper st. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185

10

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. Woolger N, et al. Among authors: cooper st. J Biol Chem. 2017 Nov 10;292(45):18577-18591. doi: 10.1074/jbc.M117.790014. Epub 2017 Sep 13. J Biol Chem. 2017. PMID: 28904177 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

139 results

Search Page

Filters