Experts and Doctors on amino acid substitution in New York, United States


Locale: New York, United States
Topic: amino acid substitution

Top Publications

  1. Ansari A, Reece R, Ptashne M. A transcriptional activating region with two contrasting modes of protein interaction. Proc Natl Acad Sci U S A. 1998;95:13543-8 pubmed
  2. Dosil M, Schandel K, Gupta E, Jenness D, Konopka J. The C terminus of the Saccharomyces cerevisiae alpha-factor receptor contributes to the formation of preactivation complexes with its cognate G protein. Mol Cell Biol. 2000;20:5321-9 pubmed
    ..These results suggest that the C-terminal cytoplasmic domain of the alpha-factor receptor, in addition to its role in receptor downregulation, promotes the formation of receptor-G-protein preactivation complexes. ..
  3. Tellinghuisen T, Foss K, Treadaway J, Rice C. Identification of residues required for RNA replication in domains II and III of the hepatitis C virus NS5A protein. J Virol. 2008;82:1073-83 pubmed
    ..These results indicate that the entire domain III region and large portions of domain II of the NS5A protein are not required for the function of NS5A in HCV RNA replication. ..
  4. Bandaranayake R, Ungureanu D, Shan Y, Shaw D, Silvennoinen O, Hubbard S. Crystal structures of the JAK2 pseudokinase domain and the pathogenic mutant V617F. Nat Struct Mol Biol. 2012;19:754-9 pubmed publisher
    ..The crystal structures of JH2 afford new opportunities for the design of novel JAK2 therapeutics targeting MPNs. ..
  5. Zolla Pazner S, Cohen S, Boyd D, Kong X, Seaman M, Nussenzweig M, et al. Structure/Function Studies Involving the V3 Region of the HIV-1 Envelope Delineate Multiple Factors That Affect Neutralization Sensitivity. J Virol. 2016;90:636-49 pubmed publisher
    ..Taken together, these and previous studies explain how V3 antibodies can protect against HIV-1 infection and why they should be one of the targets of vaccine-induced antibodies. ..
  6. Puckette M, Clark B, Smith J, Turecek T, Martel E, Gabbert L, et al. Foot-and-Mouth Disease (FMD) Virus 3C Protease Mutant L127P: Implications for FMD Vaccine Development. J Virol. 2017;91: pubmed publisher
    ..The L127P mutation represents a novel advancement for economical FMD vaccine production. ..
  7. Dohan O, Gavrielides M, Ginter C, Amzel L, Carrasco N. Na(+)/I(-) symporter activity requires a small and uncharged amino acid residue at position 395. Mol Endocrinol. 2002;16:1893-902 pubmed
    ..Substitutions of large amino acid residues at position 395 resulted in lower V(max) without affecting K(m) values for I(-) and Na(+), suggesting that these residues hamper the Na(+)/I(-) coupling reaction. ..
  8. Glaser L, Stevens J, Zamarin D, Wilson I, Garcia Sastre A, Tumpey T, et al. A single amino acid substitution in 1918 influenza virus hemagglutinin changes receptor binding specificity. J Virol. 2005;79:11533-6 pubmed
    ..Mutation of this single amino acid back to the avian consensus resulted in a preference for the avian receptor. ..
  9. Shi S, Ge C, Luo Y, Hou X, Haltiwanger R, Stanley P. The threonine that carries fucose, but not fucose, is required for Cripto to facilitate Nodal signaling. J Biol Chem. 2007;282:20133-41 pubmed
    ..By contrast, we show that O-fucose, and not the Thr to which it is attached, is required in the ligand-binding domain of Notch1 for Notch1 signaling. ..

More Information

Publications272 found, 100 shown here

  1. Heroux A, Bozinovski D, Valley M, Fitzpatrick P, Orville A. Crystal structures of intermediates in the nitroalkane oxidase reaction. Biochemistry. 2009;48:3407-16 pubmed publisher
    ..Consequently, these results provide important structural descriptions of several steps along the nitroalkane oxidase reaction cycle. ..
  2. Dubielecka P, Machida K, Xiong X, Hossain S, Ogiue Ikeda M, Carrera A, et al. Abi1/Hssh3bp1 pY213 links Abl kinase signaling to p85 regulatory subunit of PI-3 kinase in regulation of macropinocytosis in LNCaP cells. FEBS Lett. 2010;584:3279-86 pubmed publisher
  3. Tapia Alveal C, O Connell M. Nse1-dependent recruitment of Smc5/6 to lesion-containing loci contributes to the repair defects of mutant complexes. Mol Biol Cell. 2011;22:4669-82 pubmed publisher
    ..Thus the HR defect in Smc5/6 mutants appears to be due to the presence of dysfunctional complexes at lesions rather than to reflect an absolute requirement for Smc5/6 to complete HR. ..
  4. Li H, Wang S, Kong R, Ding W, Lee F, Parker Z, et al. Envelope residue 375 substitutions in simian-human immunodeficiency viruses enhance CD4 binding and replication in rhesus macaques. Proc Natl Acad Sci U S A. 2016;113:E3413-22 pubmed publisher
  5. Bromberg J, Wrzeszczynska M, Devgan G, Zhao Y, Pestell R, Albanese C, et al. Stat3 as an oncogene. Cell. 1999;98:295-303 pubmed
    ..Thus, the activated Stat3 molecule by itself can mediate cellular transformation and the experiments focus attention on the importance of constitutive Stat3 activation in human tumors. ..
  6. Dans M, Gagnoux Palacios L, Blaikie P, Klein S, Mariotti A, Giancotti F. Tyrosine phosphorylation of the beta 4 integrin cytoplasmic domain mediates Shc signaling to extracellular signal-regulated kinase and antagonizes formation of hemidesmosomes. J Biol Chem. 2001;276:1494-502 pubmed
    ..This event is required for subsequent tyrosine phosphorylation of Shc and signaling to ERK but not formation of hemidesmosomes. ..
  7. Liu J, Cao W, Lu M. Core side-chain packing and backbone conformation in Lpp-56 coiled-coil mutants. J Mol Biol. 2002;318:877-88 pubmed
    ..Thus, specific side-chain packing in the hydrophobic core of coiled coils are important determinants of protein main-chain conformation and stability. ..
  8. Miesak B, Coruzzi G. Molecular and physiological analysis of Arabidopsis mutants defective in cytosolic or chloroplastic aspartate aminotransferase. Plant Physiol. 2002;129:650-60 pubmed
    ..As such, the cytosolic AAT2 isoenzyme appears to serve a nonredundant function in plant nitrogen metabolism of Asp and Asp-derived amino acids. ..
  9. Hsiao Y, Jogl G, Tong L. Structural and biochemical studies of the substrate selectivity of carnitine acetyltransferase. J Biol Chem. 2004;279:31584-9 pubmed
    ..8-A resolution. The F565A mutation has minor effects on the structure or the substrate preference of the enzyme. ..
  10. Wang X, Lee H, Capozza F, Marmon S, Sotgia F, Brooks J, et al. Tyrosine phosphorylation of caveolin-2 at residue 27: differences in the spatial and temporal behavior of phospho-Cav-2 (pY19 and pY27). Biochemistry. 2004;43:13694-706 pubmed
    ..Taken together, these results suggest that, in addition to the common characteristics that these two sites appear to share, phospho-Cav-2 (pY19) and phospho-Cav-2 (pY27) may each possess a set of unique functional roles. ..
  11. Yang J, Zhu J, Sun D, Ding A. Suppression of macrophage responses to bacterial lipopolysaccharide (LPS) by secretory leukocyte protease inhibitor (SLPI) is independent of its anti-protease function. Biochim Biophys Acta. 2005;1745:310-7 pubmed
    ..Thus, the LPS-inhibitory action of SLPI is independent of its anti-protease function. ..
  12. Lüdtke A, Buettner J, Schmidt H, Worman H. New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand. J Med Genet. 2007;44:e88 pubmed
    ..D424N PPARgamma exhibited a loss of function, which was partially restored by adding the PPARgamma agonist rosiglitazone, suggesting possible treatment potential of this agent. ..
  13. Sorokin E, Cheng B, Rathi S, Aedo S, Abrenica M, Tse Dinh Y. Inhibition of Mg2+ binding and DNA religation by bacterial topoisomerase I via introduction of an additional positive charge into the active site region. Nucleic Acids Res. 2008;36:4788-96 pubmed publisher
    ..This approach would be similar to the inhibition of divalent ion dependent strand transfer by HIV integrase in antiviral therapy...
  14. Zhang F, Landford W, Ng M, McNatt M, Bieniasz P, Hatziioannou T. SIV Nef proteins recruit the AP-2 complex to antagonize Tetherin and facilitate virion release. PLoS Pathog. 2011;7:e1002039 pubmed publisher
    ..Accordingly, depletion of AP-2 using RNA interference impairs the ability of Nef to antagonize Tetherin, demonstrating that AP-2 recruitment is required for Nef proteins to counteract this antiviral protein. ..
  15. Bouvier N, Rahmat S, Pica N. Enhanced mammalian transmissibility of seasonal influenza A/H1N1 viruses encoding an oseltamivir-resistant neuraminidase. J Virol. 2012;86:7268-79 pubmed publisher
    ..These data provide in vivo evidence of an evolutionary mechanism that would explain the rapidity with which oseltamivir resistance achieved fixation among sH1N1 isolates in the human reservoir. ..
  16. Barrett M, Giraldo P, Capablo J, Alfonso P, Irun P, Garcia Rodriguez B, et al. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis. 2013;36:575-80 pubmed publisher
    ..GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations. ..
  17. Huang C, Cheng G, Liu Z, Chen Y, Reid M, Halverson G, et al. Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. Am J Hematol. 1999;62:25-32 pubmed
    ..These results correlate each mutation with a structural defect in the respective TM domain of Rh50 glycoprotein. ..
  18. Shi W, Tanaka K, Crother T, Taylor M, Almo S, Schramm V. Structural analysis of adenine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry. 2001;40:10800-9 pubmed
    ..Mutation of one loop residue (Tyr103Phe) increases k(cat) by 4-fold, implicating altered dynamics for the catalytic site loop. ..
  19. Cocco R, Järvinen K, Sampson H, Beyer K. Mutational analysis of major, sequential IgE-binding epitopes in alpha s1-casein, a major cow's milk allergen. J Allergy Clin Immunol. 2003;112:433-7 pubmed
    ..However, for future immunotherapeutic interventions with mutated peptides, critical AAs should be evaluated with individual patient sera to determine B-cell-epitope heterogeneity. ..
  20. Lue N, Lin Y, Mian I. A conserved telomerase motif within the catalytic domain of telomerase reverse transcriptase is specifically required for repeat addition processivity. Mol Cell Biol. 2003;23:8440-9 pubmed
    ..Our results suggest that the ability to stabilize short RNA-DNA hybrids is crucial for telomerase function in vivo and that this ability is mediated in part by a more elaborate fingers domain structure. ..
  21. Chen Z, Ost T, Schelvis J. Phe393 mutants of cytochrome P450 BM3 with modified heme redox potentials have altered heme vinyl and propionate conformations. Biochemistry. 2004;43:1798-808 pubmed
    ..Further implications of our findings for the change in redox potential upon mutation of F393 will be discussed. ..
  22. Li Z, Arnaud L, Rockwell P, Figueiredo Pereira M. A single amino acid substitution in a proteasome subunit triggers aggregation of ubiquitinated proteins in stressed neuronal cells. J Neurochem. 2004;90:19-28 pubmed
    ..These results support the notion that proteasome disruption may be central to the development of familial as well as sporadic cases of neurodegeneration. ..
  23. Schofield C, Trudell J, Harrison N. Alanine-scanning mutagenesis in the signature disulfide loop of the glycine receptor alpha 1 subunit: critical residues for activation and modulation. Biochemistry. 2004;43:10058-63 pubmed
    ..The present data implicate the Cys loop as an important functional moiety in the process of glycine receptor activation and allosteric regulation by anesthetics. ..
  24. Palermo L, Porotto M, Greengard O, Moscona A. Fusion promotion by a paramyxovirus hemagglutinin-neuraminidase protein: pH modulation of receptor avidity of binding sites I and II. J Virol. 2007;81:9152-61 pubmed
    ..These mutations permit pH to modulate the binding and fusion processes of the virus, potentially providing regulation at specific stages of the viral life cycle. ..
  25. Seligman S. Constancy and diversity in the flavivirus fusion peptide. Virol J. 2008;5:27 pubmed publisher
    ..The cell-fusing related agents may have substantial differences from other flaviviruses in their mechanism of viral entry into the host cell. ..
  26. Guo W, Urizar E, Kralikova M, Mobarec J, Shi L, Filizola M, et al. Dopamine D2 receptors form higher order oligomers at physiological expression levels. EMBO J. 2008;27:2293-304 pubmed publisher
    ..Thus, at physiological levels of expression, the receptor is organized in the plasma membrane into a higher order oligomeric structure. ..
  27. Hue Roye K, O SHEA K, Gillett R, Wadsworth L, Hume H, Barnes J, et al. The low prevalence Rh antigen Be(a) (Rh36) is associated with RHCE*ce 662C>G in exon 5, which is predicted to encode Rhce 221Arg. Vox Sang. 2010;98:e263-8 pubmed publisher
  28. Yanfeng W, Berhane H, Mola M, Singh J, Jenny A, Mlodzik M. Functional dissection of phosphorylation of Disheveled in Drosophila. Dev Biol. 2011;360:132-42 pubmed publisher
    ..In summary, our combined data indicate that while many Ser/Thr and Tyr residues are indeed phosphorylated in vivo, strikingly most of these phosphorylation events are not critical for Dsh function with the exception of DshY473. ..
  29. Meineke B, Shuman S. Determinants of the cytotoxicity of PrrC anticodon nuclease and its amelioration by tRNA repair. RNA. 2012;18:145-54 pubmed publisher
    ..Plant tRNA ligase AtRNL also countered NmePrrC-R316W toxicity, in a manner that depended on AtRNL's 5'-kinase and ligase functions. ..
  30. Byun M, Ma C, Akcay A, Pedergnana V, Palendira U, Myoung J, et al. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med. 2013;210:1743-59 pubmed publisher
    ..Together, these findings suggest that human OX40 is necessary for robust CD4(+) T cell memory and confers apparently selective protective immunity against HHV-8 infection in endothelial cells. ..
  31. Senzel L, Gordon M, Blaustein R, Oh K, Collier R, Finkelstein A. Topography of diphtheria Toxin's T domain in the open channel state. J Gen Physiol. 2000;115:421-34 pubmed
    ..We also find that, in association with channel formation, the amino terminal third of the T domain, a hydrophilic stretch of approximately 70 residues, is translocated across the membrane to the trans side. ..
  32. Verrelli B, Eanes W. Extensive amino acid polymorphism at the pgm locus is consistent with adaptive protein evolution in Drosophila melanogaster. Genetics. 2000;156:1737-52 pubmed
    ..Like G6pd, Pgm shows strong evidence for a branch point enzyme that exhibits adaptive protein evolution...
  33. Nitabach M, Llamas D, Araneda R, Intile J, Thompson I, Zhou Y, et al. A mechanism for combinatorial regulation of electrical activity: Potassium channel subunits capable of functioning as Src homology 3-dependent adaptors. Proc Natl Acad Sci U S A. 2001;98:705-10 pubmed publisher
    ..This is a mechanism for information transfer between subunits in heteromultimeric ion channels that is likely to underlie the generation of combinatorial signaling diversity in the control of cellular electrical excitability...
  34. Bewley M, Davis C, Marohnic C, Taormina D, Barber M. The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site. Biochemistry. 2003;42:13145-51 pubmed
  35. Mancuso M, Filosto M, Mootha V, Rocchi A, Pistolesi S, Murri L, et al. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology. 2004;62:2119-21 pubmed
    ..This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations...
  36. Jin Y, Cai C, Zhang X, Burakoff S. Lysine 144, a ubiquitin attachment site in HIV-1 Nef, is required for Nef-mediated CD4 down-regulation. J Immunol. 2008;180:7878-86 pubmed
    ..These data suggest that ubiquitination of Nef, particularly diubiquitination of the lysine 144, is necessary for Nef-mediated CD4 down-regulation. ..
  37. Hoos M, Ahmed M, Smith S, Van Nostrand W. Myelin basic protein binds to and inhibits the fibrillar assembly of Abeta42 in vitro. Biochemistry. 2009;48:4720-7 pubmed publisher
    ..These findings suggest that MBP may play a role in regulating the deposition of Abeta42 and thereby also may regulate the early formation of amyloid plaques in Alzheimer's disease. ..
  38. Liu J, Fackelmayer O, Hicks D, Preiss L, Meier T, Sobie E, et al. Mutations in a helix-1 motif of the ATP synthase c-subunit of Bacillus pseudofirmus OF4 cause functional deficits and changes in the c-ring stability and mobility on sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Biochemistry. 2011;50:5497-506 pubmed publisher
    ..However, the functional deficits of mutants did not correlate well with the extent of c-ring stability loss, so this property is unlikely to be a major factor in vivo. ..
  39. Seibert C, Rahmat S, Krammer F, Palese P, Bouvier N. Efficient transmission of pandemic H1N1 influenza viruses with high-level oseltamivir resistance. J Virol. 2012;86:5386-9 pubmed publisher
    ..Here we show that highly oseltamivir-resistant viruses containing both the S247N and H275Y mutations transmit efficiently in the guinea pig transmission model. ..
  40. Qiu Z, Chico L, Chang J, Shuman S, Schwer B. Genetic interactions of hypomorphic mutations in the m7G cap-binding pocket of yeast nuclear cap binding complex: an essential role for Cbc2 in meiosis via splicing of MER3 pre-mRNA. RNA. 2012;18:1996-2011 pubmed publisher
    ..These studies reveal a new level of splicing control during meiosis that is governed by nuclear CBC. ..
  41. Li Z, Huang R, Yopp D, Hileman T, Santangelo T, Hurwitz J, et al. A novel mechanism for regulating the activity of proliferating cell nuclear antigen by a small protein. Nucleic Acids Res. 2014;42:5776-89 pubmed publisher
  42. Vien M, Basilio D, Leisle L, Accardi A. Probing the conformation of a conserved glutamic acid within the Cl- pathway of a CLC H+/Cl- exchanger. J Gen Physiol. 2017;149:523-529 pubmed publisher
  43. Liu Y, Liu J, Du S, Shan C, Nie K, Zhang R, et al. Evolutionary enhancement of Zika virus infectivity in Aedes aegypti mosquitoes. Nature. 2017;545:482-486 pubmed publisher
    ..Enhancement of NS1 antigenaemia in infected hosts promotes ZIKV infectivity and prevalence in mosquitoes, which could have facilitated transmission during recent ZIKV epidemics. ..
  44. Aung T, Ozaki M, Lee M, Schlötzer Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993-1004 pubmed publisher
    ..3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology. ..
  45. Asciolla J, Miele M, Hendrickson R, Resh M. An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine. J Biol Chem. 2017;292:13507-13513 pubmed publisher
    ..These findings illustrate the unique enzyme-substrate selectivity exhibited by members of the membrane-bound O-acyl transferase family. ..
  46. Foreman H, Armstrong J, Santana A, Krug L, Reich N. The replication and transcription activator of murine gammaherpesvirus 68 cooperatively enhances cytokine-activated, STAT3-mediated gene expression. J Biol Chem. 2017;292:16257-16266 pubmed publisher
    ..Our results demonstrate that MHV68 RTA specifically recognizes and recruits activated pTyr705-STAT3 during the lytic phase of infection. ..
  47. Sotgia F, Bonuccelli G, Bedford M, Brancaccio A, Mayer U, Wilson M, et al. Localization of phospho-beta-dystroglycan (pY892) to an intracellular vesicular compartment in cultured cells and skeletal muscle fibers in vivo. Biochemistry. 2003;42:7110-23 pubmed
  48. Heslin D, Murcia P, Arnaud F, Van Doorslaer K, Palmarini M, Lenz J. A single amino acid substitution in a segment of the CA protein within Gag that has similarity to human immunodeficiency virus type 1 blocks infectivity of a human endogenous retrovirus K provirus in the human genome. J Virol. 2009;83:1105-14 pubmed publisher
    ..In addition, precise mapping of the defects in HERV-K proviruses as was done here identifies the key polymorphisms that need to be analyzed to assess the possible existence of infectious HERV-K alleles within the human population...
  49. Bradbury M, Stump D, Guarnieri F, Berk P. Molecular modeling and functional confirmation of a predicted fatty acid binding site of mitochondrial aspartate aminotransferase. J Mol Biol. 2011;412:412-22 pubmed publisher
    ..Specific residues are essential for normal fatty acid binding, without which fatty acid uptake is compromised. These results confirm the function of this protein as a fatty acid binding protein. ..
  50. Spratt T. Identification of hydrogen bonds between Escherichia coli DNA polymerase I (Klenow fragment) and the minor groove of DNA by amino acid substitution of the polymerase and atomic substitution of the DNA. Biochemistry. 2001;40:2647-52 pubmed
    ..Similar reactions between R668A or Q849A and T2 showed that there are interactions between these sites although the interactions are not as strong as between P1 and R668. ..
  51. Nagata T, Werner M. Functional mutagenesis of AML1/RUNX1 and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain. J Mol Biol. 2001;308:191-203 pubmed
    ..The molecular basis for the DNA-binding defect is analyzed in the context of the three-dimensional structure of the Runt domain in binary and ternary protein/DNA complexes...
  52. Murrell M, Porotto M, Greengard O, Poltoratskaia N, Moscona A. A single amino acid alteration in the human parainfluenza virus type 3 hemagglutinin-neuraminidase glycoprotein confers resistance to the inhibitory effects of zanamivir on receptor binding and neuraminidase activity. J Virol. 2001;75:6310-20 pubmed
    ..An understanding of ZM1 and other escape variants provides insight into the effects of this small molecule on HN function as well as the role of the HN glycoprotein in HPF3 pathogenesis. ..
  53. Dickson T, Mintz C, Benson D, Salton S. Functional binding interaction identified between the axonal CAM L1 and members of the ERM family. J Cell Biol. 2002;157:1105-12 pubmed
    ..Together, our data indicate that L1 binds directly to members of the ERM family and suggest this association may coordinate aspects of axonal morphogenesis. ..
  54. Schuck S, Stenlund A. Role of papillomavirus E1 initiator dimerization in DNA replication. J Virol. 2005;79:8661-4 pubmed
    ..We conclude that the dimer interaction is primarily required for initial recognition of ori. ..
  55. Cao L, Dhilla A, Mukai J, Blazeski R, Lodovichi C, Mason C, et al. Genetic modulation of BDNF signaling affects the outcome of axonal competition in vivo. Curr Biol. 2007;17:911-21 pubmed
    ..Our results have implications for the formation and refinement of the olfactory and other sensory maps, as well as for neuropsychiatric diseases and traits modulated by the BDNF val66met variant. ..
  56. Li X, Tan Y, Poulose S, Olanow C, Huang X, Yue Z. Leucine-rich repeat kinase 2 (LRRK2)/PARK8 possesses GTPase activity that is altered in familial Parkinson's disease R1441C/G mutants. J Neurochem. 2007;103:238-47 pubmed
    ..The distinctive levels of kinase/GTPase activity in brain LRRK2 may help explain LRRK2-associated neuronal functions or dysfunctions in the pathogenesis of PD. ..
  57. Koppikar P, Levine R. JAK2 and MPL mutations in myeloproliferative neoplasms. Acta Haematol. 2008;119:218-25 pubmed publisher
    ..In this review, we will discuss the genetics of PV, ET and PMF with regard to known somatic mutations, the role of these mutations in hematopoietic transformation and the therapeutic implications of these findings. ..
  58. Mahadeo K, Dhall G, Panigrahy A, Lastra C, Ettinger L. Subacute methotrexate neurotoxicity and cerebral venous sinus thrombosis in a 12-year-old with acute lymphoblastic leukemia and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: homocysteine-mediated methotrexate neurotoxicity via direc. Pediatr Hematol Oncol. 2010;27:46-52 pubmed publisher
    ..The role of homocysteine as a possible mediator in methotrexate-induced neurotoxicity via direct endothelial injury is discussed. ..
  59. Nassar N, Singh K, Garcia Diaz M. Structure of the dominant negative S17N mutant of Ras. Biochemistry. 2010;49:1970-4 pubmed publisher
  60. Lu M, Wang J, Li Y, Berenzon D, Wang X, Mascarenhas J, et al. Treatment with the Bcl-xL inhibitor ABT-737 in combination with interferon ? specifically targets JAK2V617F-positive polycythemia vera hematopoietic progenitor cells. Blood. 2010;116:4284-7 pubmed publisher
    ..These data provide the rationale for combination therapy with low doses of IFN? and a BH3 mimetic for patients with PV. ..
  61. Guo J, Gertsberg Z, Ozgen N, Sabri A, Steinberg S. Protein kinase D isoforms are activated in an agonist-specific manner in cardiomyocytes. J Biol Chem. 2011;286:6500-9 pubmed publisher
    ..Collectively, these studies identify distinct roles for native PKD1 and PKD2 enzymes in stress-dependent pathways that influence cardiac remodeling and the progression of heart failure. ..
  62. Beenken A, Eliseenkova A, Ibrahimi O, Olsen S, Mohammadi M. Plasticity in interactions of fibroblast growth factor 1 (FGF1) N terminus with FGF receptors underlies promiscuity of FGF1. J Biol Chem. 2012;287:3067-78 pubmed publisher
  63. Hue Roye K, Reid M. The molecular basis of the LU:7 and LU:-7 phenotypes. Immunohematology. 2012;28:130-1 pubmed
    ..This completes the molecular basis associated with all antigens known to be in the Lutheran blood group system. ..
  64. Ying C, Dominguez Sola D, Fabi M, Lorenz I, Hussein S, Bansal M, et al. MEF2B mutations lead to deregulated expression of the oncogene BCL6 in diffuse large B cell lymphoma. Nat Immunol. 2013;14:1084-92 pubmed publisher
    ..Thus, somatic mutations of MEF2B may contribute to lymphomagenesis by deregulating BCL6 expression, and MEF2B may represent an alternative target for blocking Bcl-6 activity in DLBCLs. ..
  65. Hamilton P, Belovich A, Khelashvili G, Saunders C, Erreger K, Javitch J, et al. PIP2 regulates psychostimulant behaviors through its interaction with a membrane protein. Nat Chem Biol. 2014;10:582-589 pubmed publisher
    ..We present what is to our knowledge the first demonstration of how PIP2 interactions with a membrane protein can regulate the behaviors of complex organisms. ..
  66. Iaea D, Dikiy I, Kiburu I, Eliezer D, Maxfield F. STARD4 Membrane Interactions and Sterol Binding. Biochemistry. 2015;54:4623-36 pubmed publisher
    ..On the basis of these observations, we propose a model of STARD4 membrane interaction and sterol binding and release that requires dynamic movement of both the Ω1 loop and membrane insertion of the C-terminal α-helix. ..
  67. Andreu A, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, et al. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. Neuromuscul Disord. 1999;9:171-3 pubmed
  68. Maftahi M, Han C, Langston L, Hope J, Zigouras N, Freyer G. The top3(+) gene is essential in Schizosaccharomyces pombe and the lethality associated with its loss is caused by Rad12 helicase activity. Nucleic Acids Res. 1999;27:4715-24 pubmed
    ..The low viability of rad12 (-) top3 (-)mutants compared with rad12 single mutants suggests that Top3 also functions independently of Rad12. ..
  69. Chen A, Wu K, Fuchs S, Tan P, Gomez C, Pan Z. The conserved RING-H2 finger of ROC1 is required for ubiquitin ligation. J Biol Chem. 2000;275:15432-9 pubmed
    ..Thus, the ROC1 RING-H2 finger may possess multiple biochemical properties that include stabilizing an interaction with CUL1 and recruiting Cdc34. A possible role of the RING finger in facilitating the Ub transfer reaction is discussed. ..
  70. Kramer H, Andria M, Kushner S, Esposito D, Hiller J, Simon E. Mutation of tyrosine 318 (Y318F) in the delta-opioid receptor attenuates tyrosine phosphorylation, agonist-dependent receptor internalization, and mitogen-activated protein kinase activation. Brain Res Mol Brain Res. 2000;79:55-66 pubmed
    ..These findings implicate tyrosine phosphorylation of Y318 in receptor signalling and agonist-mediated regulation. ..
  71. Zheng Y, Schlondorff J, Blobel C. Evidence for regulation of the tumor necrosis factor alpha-convertase (TACE) by protein-tyrosine phosphatase PTPH1. J Biol Chem. 2002;277:42463-70 pubmed
    ..Taken together, these results suggest that PTPH1 may be a negative regulator of TACE levels and function, and thus provide the first evidence for the regulation of TACE through a cytoplasmic protein. ..
  72. Regelmann A, Lesley J, Mott C, Stokes L, Waldburger C. Mutational analysis of the Escherichia coli PhoQ sensor kinase: differences with the Salmonella enterica serovar Typhimurium PhoQ protein and in the mechanism of Mg2+ and Ca2+ sensing. J Bacteriol. 2002;184:5468-78 pubmed
    ..The defect does not appear to be due to reduced autokinase activity but rather appears to be due to an effect on the stability of the aspartyl-phosphate bond of phospho-PhoP. ..
  73. Worley T, Vallon Christersson J, Billack B, Borg A, Monteiro A. A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein. Cancer Biol Ther. 2002;1:497-501 pubmed
  74. Kiaei M, Bush A, Morrison B, Morrison J, Cherny R, Volitakis I, et al. Genetically decreased spinal cord copper concentration prolongs life in a transgenic mouse model of amyotrophic lateral sclerosis. J Neurosci. 2004;24:7945-50 pubmed
    ..These findings provide evidence supporting a role for copper in the pathogenesis of FALS linked to SOD1 mutations. ..
  75. Chen L, Kurokawa J, Kass R. Phosphorylation of the A-kinase-anchoring protein Yotiao contributes to protein kinase A regulation of a heart potassium channel. J Biol Chem. 2005;280:31347-52 pubmed
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