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Items: 1 to 20 of 57

1.

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.

Patel D, Kopec J, Fitzpatrick F, McCorvie TJ, Yue WW.

Sci Rep. 2016 Apr 6;6:23748. doi: 10.1038/srep23748.

2.

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L, Yue WW.

Hum Mol Genet. 2016 Mar 22. pii: ddw091. [Epub ahead of print]

3.

Expanding the Genotypic Spectrum of Perrault syndrome.

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.

Clin Genet. 2016 Mar 11. doi: 10.1111/cge.12776. [Epub ahead of print]

PMID:
26970254
4.

Treatment efficacy and safety of ultrasound-guided percutaneous bipolar radiofrequency ablation for benign thyroid nodules.

Li XL, Xu HX, Lu F, Yue WW, Sun LP, Bo XW, Guo LH, Xu JM, Liu BJ, Li DD, Qu S.

Br J Radiol. 2016 Mar;89(1059):20150858. doi: 10.1259/bjr.20150858. Epub 2016 Jan 22.

PMID:
26800232
5.

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S.

Eur J Paediatr Neurol. 2016 Mar;20(2):286-95. doi: 10.1016/j.ejpn.2015.11.012. Epub 2015 Dec 18.

PMID:
26748598
6.

Use of Methylmalonyl-CoA Epimerase in Enhancing Crotonase Stereoselectivity.

Hamed RB, Gomez-Castellanos JR, Sean Froese D, Krysztofinska E, Yue WW, Schofield CJ.

Chembiochem. 2016 Mar 15;17(6):471-3. doi: 10.1002/cbic.201500644. Epub 2016 Feb 16.

PMID:
26716911
7.

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ.

Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014. Epub 2015 Dec 10.

PMID:
26687144
8.

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW.

J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268. Epub 2015 Oct 19.

9.

Neuropsin (OPN5)-mediated photoentrainment of local circadian oscillators in mammalian retina and cornea.

Buhr ED, Yue WW, Ren X, Jiang Z, Liao HW, Mei X, Vemaraju S, Nguyen MT, Reed RR, Lang RA, Yau KW, Van Gelder RN.

Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):13093-8. doi: 10.1073/pnas.1516259112. Epub 2015 Sep 21.

10.

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Colak G, Pougovkina O, Dai L, Tan M, Te Brinke H, Huang H, Cheng Z, Park J, Wan X, Liu X, Yue WW, Wanders RJ, Locasale JW, Lombard DB, de Boer VC, Zhao Y.

Mol Cell Proteomics. 2015 Nov;14(11):3056-71. doi: 10.1074/mcp.M115.048850. Epub 2015 Aug 28.

PMID:
26320211
11.

Crystal structure of Porphyromonas gingivalis peptidylarginine deiminase: implications for autoimmunity in rheumatoid arthritis.

Montgomery AB, Kopec J, Shrestha L, Thezenas ML, Burgess-Brown NA, Fischer R, Yue WW, Venables PJ.

Ann Rheum Dis. 2015 Jul 24. pii: annrheumdis-2015-207656. doi: 10.1136/annrheumdis-2015-207656. [Epub ahead of print]

12.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW.

Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

13.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D.

Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30.

14.

Carnosine metabolism in diabetes is altered by reactive metabolites.

Peters V, Lanthaler B, Amberger A, Fleming T, Forsberg E, Hecker M, Wagner AH, Yue WW, Hoffmann GF, Nawroth P, Zschocke J, Schmitt CP.

Amino Acids. 2015 Nov;47(11):2367-76. doi: 10.1007/s00726-015-2024-z. Epub 2015 Jun 17.

PMID:
26081982
15.

Heart rate turbulence in masked hypertension and white-coat hypertension.

Song CL, Zhang X, Liu YK, Yue WW, Wu H.

Eur Rev Med Pharmacol Sci. 2015 Apr;19(8):1457-60.

16.

Coronary Revascularization Improves QT Dispersion in Patients with Chronic Coronary Artery Total Occlusion.

Zhang F, Zhang X, Zhang X, Chen B, Liu Y, Yue WW, Jia RY.

Cell Biochem Biophys. 2015 May;72(1):127-30. doi: 10.1007/s12013-014-0419-1.

PMID:
25539707
17.

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Mataković L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA.

Mol Genet Metab. 2014 Dec;113(4):301-6. doi: 10.1016/j.ymgme.2014.09.010. Epub 2014 Oct 5.

PMID:
25458521
18.

Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation.

McCorvie TJ, Kopec J, Hyung SJ, Fitzpatrick F, Feng X, Termine D, Strain-Damerell C, Vollmar M, Fleming J, Janz JM, Bulawa C, Yue WW.

J Biol Chem. 2014 Dec 26;289(52):36018-30. doi: 10.1074/jbc.M114.610782. Epub 2014 Oct 21.

19.

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

20.

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A, Blau N.

Eur J Hum Genet. 2015 Mar;23(3):302-9. doi: 10.1038/ejhg.2014.114. Epub 2014 Jun 18.

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