17 results for author:"Cooper S.T." in Literature citations
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| Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Lek A., Evesson F.J., Sutton R.B., North K.N., Cooper S.T. Traffic 13:185-194(2012) · Mapped (2) |
| Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. Waddell L.B., Lemckert F.A., Zheng X.F., Tran J., Evesson F.J., Hawkes J.M., Lek A., Street N.E., Lin P., Clarke N.F. et al. J. Neuropathol. Exp. Neurol. 70:302-313(2011) · Mapped (12) |
| Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. Evesson F.J., Peat R.A., Lek A., Brilot F., Lo H.P., Dale R.C., Parton R.G., North K.N., Cooper S.T. J. Biol. Chem. 285:28529-28539(2010) · Mapped (9) |
| Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Clarke N.F., Waddell L.B., Cooper S.T., Perry M., Smith R.L.L., Kornberg A.J., Muntoni F., Lillis S., Straub V., Bushby K. et al. Hum. Mutat. 31:E1544-E1550(2010) · UniProtKB (1) · Mapped (5) |
| Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Compton A.G., Albrecht D.E., Seto J.T., Cooper S.T., Ilkovski B., Jones K.J., Challis D., Mowat D., Ranscht B., Bahlo M. et al. Am. J. Hum. Genet. 83:714-724(2008) · UniProtKB (1) · Mapped (3) |
| Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Au C.G., Butler T.L., Egan J.R., Cooper S.T., Lo H.P., Compton A.G., North K.N., Winlaw D.S. Acta Neuropathol. 116:235-246(2008) |
| Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Lo H.P., Cooper S.T., Evesson F.J., Seto J.T., Chiotis M., Tay V., Compton A.G., Cairns A.G., Corbett A., MacArthur D.G. et al. Neuromuscul. Disord. 18:34-44(2008) · Mapped (6) |
| Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Domazetovska A., Ilkovski B., Kumar V., Valova V.A., Vandebrouck A., Hutchinson D.O., Robinson P.J., Cooper S.T., Sparrow J.C., Peckham M. et al. |
| Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hernandez-Deviez D.J., Martin S., Laval S.H., Lo H.P., Cooper S.T., North K.N., Bushby K., Parton R.G. Hum. Mol. Genet. 15:129-142(2006) · Mapped (8) |
| A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11. Cooper S.T., Hanson I.M. BMC Genet. 6:43-43(2005) · Mapped (25) |
| Protein C inhibitor (plasminogen activator inhibitor-3) expression in the CWR22 prostate cancer xenograft. Glasscock L.N., Rehault S.M., Gregory C.W., Cooper S.T., Jackson T.P., Hoffman M., Church F.C. Exp. Mol. Pathol. 79:23-32(2005) · Mapped (4) |
| Heterozygous mutations of OTX2 cause severe ocular malformations. Ragge N.K., Brown A.G., Poloschek C.M., Lorenz B., Henderson R.A., Clarke M.P., Russell-Eggitt I., Fielder A., Gerrelli D., Martinez-Barbera J.P. et al. Am. J. Hum. Genet. 76:1008-1022(2005) · UniProtKB (1) · Mapped (3) |
| The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Compton A.G., Cooper S.T., Hill P.M., Yang N., Froehner S.C., North K.N. J. Neuropathol. Exp. Neurol. 64:350-361(2005) · Mapped (9) |
| Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Ilkovski B., Nowak K.J., Domazetovska A., Maxwell A.L., Clement S., Davies K.E., Laing N.G., North K.N., Cooper S.T. Hum. Mol. Genet. 13:1727-1743(2004) · UniProtKB (1) |
| Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Ilkovski B., Cooper S.T., Nowak K., Ryan M.M., Yang N., Schnell C., Durling H.J., Roddick L.G., Wilkinson I., Kornberg A.J. et al. Am. J. Hum. Genet. 68:1333-1343(2001) · UniProtKB (1) |
| Intermolecular interactions between protein C inhibitor and coagulation proteases. Cooper S.T., Whinna H.C., Jackson T.P., Boyd J.M., Church F.C. Biochemistry 34:12991-12997(1995) · UniProtKB (1) |
| Pig apolipoprotein R: a new member of the short consensus repeat family of proteins. Cooper S.T., Attie A.D. Biochemistry 31:12328-12336(1992) · UniProtKB (1) |