Experts and Doctors on amino acid substitution in Germany

Summary

Locale: Germany
Topic: amino acid substitution

Top Publications

  1. Enard W, Przeworski M, Fisher S, Lai C, Wiebe V, Kitano T, et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 2002;418:869-72 pubmed publisher
    ..Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution...
  2. Young J, Hoogenraad N, Hartl F. Molecular chaperones Hsp90 and Hsp70 deliver preproteins to the mitochondrial import receptor Tom70. Cell. 2003;112:41-50 pubmed
    ..We outline a novel mechanism in which chaperones are recruited for a specific targeting event by a membrane-bound receptor. ..
  3. Pollmann K, Wray V, Hecht H, Pieper D. Rational engineering of the regioselectivity of TecA tetrachlorobenzene dioxygenase for the transformation of chlorinated toluenes. Microbiology. 2003;149:903-13 pubmed
    ..As new products, 3,4,6-trichloro-1-methyl-1,2-dihydroxy-1,2-dihydrocyclohexan-3,5-diene, 4,6-dichloro-3-methylcatechol, 3,6-dichloro-4-methylcatechol and 3,4-dichloro-6-methylcatechol were identified. ..
  4. Deplazes J, Schöbel K, Hochstrasser H, Bauer P, Walter U, Behnke S, et al. Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. J Neural Transm (Vienna). 2004;111:515-21 pubmed
    ..In one patient a -74C > T variation was found which was not present in the control group. Our data indicate that mutations in the IRP2 gene are not a common cause of PD associated with SN iron accumulation. ..
  5. Hanke S, Valkova C, Stirnweiss J, Drube S, Liebmann C. Activated EGF receptor may balance ERK-inhibitory network signalling pathways. Cell Signal. 2006;18:1031-40 pubmed
    ..Our findings suggest that the EGFR may control the cellular network rather by balancing mechanisms then by switch on/off reactions. ..
  6. Hering R, Frade Martinez R, Bajanowski T, Poets C, Tschentscher F, Riess O. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Genet Med. 2006;8:55-8 pubmed
    ..No association of sequence variations in the TSPYL1 gene and SIDS has been found in a German cohort. Genetic analysis of TSPYL1 seems to be of limited significance in the differential diagnosis of SIDS without dysgenesis of the testes. ..
  7. Mrabet Dahbi S, Dalpke A, Niebuhr M, Frey M, Draing C, Brand S, et al. The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-like receptor expression in atopic dermatitis. J Allergy Clin Immunol. 2008;121:1013-9 pubmed publisher
    ..Collectively, the outcome of innate and adaptive immune responses in AD is modulated by the TLR-2 R753Q SNP. ..
  8. Steinle A, Bergander K, Steinbüchel A. Metabolic engineering of Saccharomyces cerevisiae for production of novel cyanophycins with an extended range of constituent amino acids. Appl Environ Microbiol. 2009;75:3437-46 pubmed publisher
  9. Bugert P, Scharberg E, Geisen C, von Zabern I, Flegel W. RhCE protein variants in Southwestern Germany detected by serologic routine testing. Transfusion. 2009;49:1793-802 pubmed publisher
    ..Nucleotide substitutions in RHCE exons were excluded as possible mechanism of diminished RhCE antigen expression in one-fifth of the serologically identified samples. ..

More Information

Publications231 found, 100 shown here

  1. Kneissl J, Shinomura T, Furuya M, Bolle C. A rice phytochrome A in Arabidopsis: The Role of the N-terminus under red and far-red light. Mol Plant. 2008;1:84-102 pubmed publisher
    ..The efficacy of the rice phyA expressed in Arabidopsis was dependent upon the developmental age of the plants analyzed and on the physiological response, suggesting a stage-dependent downstream modulation of phytochrome signaling...
  2. Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord. 2010;20:255-9 pubmed publisher
    ..The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy...
  3. Grosse W, Reiss P, Reitz S, Cebi M, Lübben W, Koert U, et al. Structural and functional characterization of a synthetically modified OmpG. Bioorg Med Chem. 2010;18:7716-23 pubmed publisher
    ..4Å resolution correlates this finding by showing that the modulator lines the inner walling of the OmpG pore. These results underline the suitability of OmpG as a structural base for the construction of stochastic sensors. ..
  4. Stephan C, Dauer B, Bickel M, Haberl A, Locher L, Muller A, et al. Intensification of a failing regimen with zidovudine may cause sustained virologic suppression in the presence of resensitising mutations including K65R. J Infect. 2010;61:346-50 pubmed publisher
    ..The finding of re-sensitized HIV-1 in patients may be clinically relevant. ..
  5. Richter A, Schagdarsurengin U, Rastetter M, Steinmann K, Dammann R. Protein kinase A-mediated phosphorylation of the RASSF1A tumour suppressor at Serine 203 and regulation of RASSF1A function. Eur J Cancer. 2010;46:2986-95 pubmed publisher
    ..In summary our data show that RASSF1A is phosphorylated by PKA and this phosphorylation may affect apoptotic signalling of RASSF1A. Thus epigenetic silencing of RASSF1A may counteract its proapoptotic function in cancer. ..
  6. Welker S, Markert Y, Köditz J, Mansfeld J, Ulbrich Hofmann R. Disulfide bonds of phospholipase A2 from bee venom yield discrete contributions to its conformational stability. Biochimie. 2011;93:195-201 pubmed publisher
  7. Schaefer C, Rost B. Predict impact of single amino acid change upon protein structure. BMC Genomics. 2012;13 Suppl 4:S4 pubmed publisher
    ..Local structural change can be predicted. Future work will have to establish how useful this new perspective on predicting the effect of nsSNPs will be in combination with other methods. ..
  8. Kirchhefer U, Heinick A, König S, Kristensen T, Müller F, Seidl M, et al. Protein phosphatase 2A is regulated by protein kinase C? (PKC?)-dependent phosphorylation of its targeting subunit B56? at Ser41. J Biol Chem. 2014;289:163-76 pubmed publisher
    ..This interplay between PKC? and PP2A represents a new mechanism to regulate important cellular functions like cellular Ca(2+) homeostasis. ..
  9. Nowak J, Schneiders T, Seifert H, Higgins P. The Asp20-to-Asn Substitution in the Response Regulator AdeR Leads to Enhanced Efflux Activity of AdeB in Acinetobacter baumannii. Antimicrob Agents Chemother. 2016;60:1085-90 pubmed publisher
    ..Furthermore, the characterization of the Asp20→Asn20 substitution proves that the reduced antimicrobial susceptibility previously associated with this substitution was indeed caused by enhanced efflux activity of AdeB. ..
  10. Pretzel J, Gehr M, Eisenkolb M, Wang L, Fritz Wolf K, Rahlfs S, et al. Characterization and redox regulation of Plasmodium falciparum methionine adenosyltransferase. J Biochem. 2016;160:355-367 pubmed
    ..This phenomenon connects cellular S-adenosylmethionine synthesis to the redox state of PfalMAT and therefore to the cellular redox homeostasis. ..
  11. Saramago M, Peregrina A, Robledo M, Matos R, Hilker R, Serrania J, et al. Sinorhizobium meliloti YbeY is an endoribonuclease with unprecedented catalytic features, acting as silencing enzyme in riboregulation. Nucleic Acids Res. 2017;45:1371-1391 pubmed publisher
    ..We have thus discovered a bacterial endoribonuclease with unprecedented catalytic features, acting also as gene silencing enzyme...
  12. Upadhyay A, Stehling O, Panayiotou C, Rösser R, Lill R, Overby A. Cellular requirements for iron-sulfur cluster insertion into the antiviral radical SAM protein viperin. J Biol Chem. 2017;292:13879-13889 pubmed publisher
    ..Collectively, viperin maturation represents a novel CIA pathway with a minimal requirement of the CIA-targeting factors and represents a new paradigm for the insertion of the Fe/S cofactor into a radical SAM protein. ..
  13. Bakou M, Hille K, Kracklauer M, Spanopoulou A, Frost C, Malideli E, et al. Key aromatic/hydrophobic amino acids controlling a cross-amyloid peptide interaction versus amyloid self-assembly. J Biol Chem. 2017;292:14587-14602 pubmed publisher
    ..We propose that these insights will aid in designing intervention strategies and novel IAPP analogs for the management of type 2 diabetes, Alzheimer's disease, or other diseases related to IAPP dysfunction or cross-amyloid interactions. ..
  14. Huhn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, et al. Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet. 1998;102:305-13 pubmed
    ..Expression of R433Q and R433W demonstrate reduced activity of the mutant proteins. In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II. ..
  15. Peters H, Kammer G, Volz A, Kaupmann K, Ziegler A, Bettler B, et al. Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. Neurogenetics. 1998;2:47-54 pubmed
    ..However, clinically unaffected relatives did carry the same variations, excluding these amino acid substitutions as the cause for IGE in these families. ..
  16. Popanda O, Flohr T, Fox G, Thielmann H. A mutation detected in DNA polymerase delta cDNA from Novikoff hepatoma cells correlates with abnormal catalytic properties of the enzyme. J Cancer Res Clin Oncol. 1999;125:598-608 pubmed
    ..We conclude that the point mutation detected in the cDNA might be causally related to the observed changes in inhibition characteristics and copying fidelity. ..
  17. Nindl I, Zumbach K, Pawlita M, Teller K, Schneider A, Durst M. Absence of antibody against human papillomavirus type 16 E6 and E7 in patients with cervical cancer is independent of sequence variations. J Infect Dis. 2000;181:1764-7 pubmed
    ..The lack of HPV-16 E6 or E7 antibodies is independent of naturally occurring variants in cervical cancer patients. Thus, testing for HPV-16 E6 or E7 prototype antigens seems to be sufficient in serological assays. ..
  18. Wunderlich F, Wildner H, Rajewsky K, Edenhofer F. New variants of inducible Cre recombinase: a novel mutant of Cre-PR fusion protein exhibits enhanced sensitivity and an expanded range of inducibility. Nucleic Acids Res. 2001;29:E47 pubmed
    ..Thus, the recombinase activity turns out to be inducible by a factor of >200. We expect Cre*PR to serve as a valuable tool for conditional expression of genes both in vitro and in vivo...
  19. Trummer T, Brenner R, Just W, Vogel W, Kennerknecht I. Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta. Clin Genet. 2001;59:338-43 pubmed
    ..An apparent preferential substitution by cysteine and serine residues is discussed with reference to post-transcriptional or post-translational collagen assembly control. ..
  20. Haeseler G, Störmer M, Mohammadi B, Bufler J, Dengler R, Piepenbrock S, et al. The anesthetic propofol modulates gating in paramyotonia congenita mutant muscle sodium channels. Muscle Nerve. 2001;24:736-43 pubmed
    ..Our in vitro results show that inactivation-deficient sodium channels are specifically targeted and blocked by propofol. This might reduce enhanced muscle excitability experienced by affected patients in vivo...
  21. Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, et al. V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. Mamm Genome. 2002;13:452-5 pubmed
    ..5 pH units in the 10 amino acids surrounding position 76. The Crygd(Aey4) additionally demonstrates the importance of the integrity of the Cryg gene cluster for lens transparency. ..
  22. Zielinski M, Kahl S, Hecht H, Hofer B. Pinpointing biphenyl dioxygenase residues that are crucial for substrate interaction. J Bacteriol. 2003;185:6976-80 pubmed
    ..6 and 3.5). This demonstrates that residues which had not been predicted to be influential can play a pivotal role in BDO specificity. ..
  23. Schaffler A, Zeitoun M, Wobser H, Buechler C, Aslanidis C, Herfarth H. Frequency and significance of the novel single nucleotide missense polymorphism Val109Asp in the human gene encoding omentin in Caucasian patients with type 2 diabetes mellitus or chronic inflammatory bowel diseases. Cardiovasc Diabetol. 2007;6:3 pubmed
    ..Moreover, position 109 lies outside the fibrinogen domain. Due to these structural features and based on the present data, the Val109Asp sequence variation is more a single nucleotide polymorphism than a real disease-causing mutation. ..
  24. Fend F, Horn T, Koch I, Vela T, Orazi A. Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm. Leuk Res. 2008;32:1931-5 pubmed publisher
  25. Menzel V, Cassará M, Benz R, De Pinto V, Messina A, Cunsolo V, et al. Molecular and functional characterization of VDAC2 purified from mammal spermatozoa. Biosci Rep. 2009;29:351-62 pubmed publisher
    ..1.5 nS. Bovine spermatozoa VDAC2 was anion selective and showed voltage dependence. The present study is the first work to report the purification and characterization of VDAC2 from a mammalian tissue. ..
  26. Beste C, Baune B, Domschke K, Falkenstein M, Konrad C. Paradoxical association of the brain-derived-neurotrophic-factor val66met genotype with response inhibition. Neuroscience. 2010;166:178-84 pubmed publisher
    ..This is the first study showing that met alleles of the BDNF val66met polymorphism confer an advantage for a specific cognitive function. We propose a neuronal model how this advantage gets manifest on a neuronal level. ..
  27. Jortzik E, Fritz Wolf K, Sturm N, Hipp M, Rahlfs S, Becker K. Redox regulation of Plasmodium falciparum ornithine ?-aminotransferase. J Mol Biol. 2010;402:445-59 pubmed publisher
    ..Plasmodium might require a tight Trx-mediated control of OAT activity for coordinating ornithine homeostasis, polyamine synthesis, proline synthesis, and mitotic cell division...
  28. Webel R, Milbradt J, Auerochs S, Schregel V, Held C, Nöbauer K, et al. Two isoforms of the protein kinase pUL97 of human cytomegalovirus are differentially regulated in their nuclear translocation. J Gen Virol. 2011;92:638-49 pubmed publisher
    ..Taken together, the findings argue for a complex mechanism of nuclear translocation for pUL97 which might be linked with fine-regulatory differences between the two isoforms. ..
  29. Olkhova E, Raba M, Bracher S, Hilger D, Jung H. Homology model of the Na+/proline transporter PutP of Escherichia coli and its functional implications. J Mol Biol. 2011;406:59-74 pubmed publisher
  30. Czarna A, Breitkreuz H, Mahrenholz C, Arens J, Strauss H, Wolf E. Quantitative analyses of cryptochrome-mBMAL1 interactions: mechanistic insights into the transcriptional regulation of the mammalian circadian clock. J Biol Chem. 2011;286:22414-25 pubmed publisher
    ..Moreover, our study suggests the design of peptidic inhibitors targeting the interaction of the mCRY1 tail with mBMAL1. ..
  31. Battenberg O, Yang Y, Verhelst S, Sieber S. Target profiling of 4-hydroxyderricin in S. aureus reveals seryl-tRNA synthetase binding and inhibition by covalent modification. Mol Biosyst. 2013;9:343-51 pubmed publisher
    ..This modification results in inhibition of the amino acylation of tRNAs catalyzed by S. aureus STS which is an essential enzymatic pathway for bacterial viability. ..
  32. Santiago Walker A, Gagnon R, Mazumdar J, Casey M, Long G, Schadendorf D, et al. Correlation of BRAF Mutation Status in Circulating-Free DNA and Tumor and Association with Clinical Outcome across Four BRAFi and MEKi Clinical Trials. Clin Cancer Res. 2016;22:567-74 pubmed publisher
    ..The lack of circulating, BRAF mutation-positive cfDNA is clinically significant for metastatic melanoma patients, and may be a prognostic marker for better disease outcome. ..
  33. Hoffjan S, Stemmler S, Parwez Q, Petrasch Parwez E, Arinir U, Rohde G, et al. Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease. BMC Med Genet. 2005;6:34 pubmed
    ..03). Yet, significance was lost after Bonferroni correction. No association was evident for AD or COPD. Variation in TLR6 might play a role in the pathogenesis of childhood asthma. ..
  34. Shima S, Thauer R, Ermler U, Durchschlag H, Tziatzios C, Schubert D. A mutation affecting the association equilibrium of formyltransferase from the hyperthermophilic Methanopyrus kandleri and its influence on the enzyme's activity and thermostability. Eur J Biochem. 2000;267:6619-23 pubmed
    ..With the mutant protein it was shown that tetramerization is not required for activity but is necessary for high thermostability. ..
  35. Illarionov B, Eisenreich W, Bacher A. A pentacyclic reaction intermediate of riboflavin synthase. Proc Natl Acad Sci U S A. 2001;98:7224-9 pubmed
    ..Enzyme-catalyzed fragmentation of this compound under formation of riboflavin can occur easily by a sequence of two elimination reactions. ..
  36. Kautz A, Weisshart K, Schneider A, Grosse F, Nasheuer H. Amino acids 257 to 288 of mouse p48 control the cooperation of polyomavirus large T antigen, replication protein A, and DNA polymerase alpha-primase to synthesize DNA in vitro. J Virol. 2001;75:8569-78 pubmed
    ..DNA synthesis on RPA-bound ssDNA revealed that amino acid (aa) 262, aa 266, and aa 273 to 288 are involved in the functional cooperation of RPA, pol-prim, and PyV Tag. ..
  37. Höhnle M, Hofer P, Bedford I, Briddon R, Markham P, Frischmuth T. Exchange of three amino acids in the coat protein results in efficient whitefly transmission of a nontransmissible Abutilon mosaic virus isolate. Virology. 2001;290:164-71 pubmed
    ..tabaci. Instead it is the composition of the coat protein domain from amino acid 123 to 149, as a minimal transmission domain, with the contribution of amino acids 149 to 174 for efficient transmission. ..
  38. Orlik F, Andersen C, Benz R. Site-directed mutagenesis of tyrosine 118 within the central constriction site of the LamB (Maltoporin) channel of Escherichia coli. I. Effect on ion transport. Biophys J. 2002;82:2466-75 pubmed
  39. Hannemann F, Bera A, Fischer B, Lisurek M, Teuchner K, Bernhardt R. Unfolding and conformational studies on bovine adrenodoxin probed by engineered intrinsic tryptophan fluorescence. Biochemistry. 2002;41:11008-16 pubmed
    ..Unfolding experiments with Gdn-HCl and time-resolved stopped-flow measurements provide evidence for differential stability and a chronologically ordered unfolding mechanism of the different fluorescence probe positions in the protein. ..
  40. Bramkamp M, Altendorf K. Mutational analysis of charged residues in the putative KdpB-TM5 domain of the Kdp-ATPase of Escherichia coli. Ann N Y Acad Sci. 2003;986:351-3 pubmed
  41. Illig T, Bongardt F, Schöpfer A, Holle R, Müller S, Rathmann W, et al. The endotoxin receptor TLR4 polymorphism is not associated with diabetes or components of the metabolic syndrome. Diabetes. 2003;52:2861-4 pubmed
  42. Jurkat Rott K, Lehmann Horn F. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. Neurology. 2004;62:1012-5 pubmed
  43. Schiller D, Kramer R, Morbach S. Cation specificity of osmosensing by the betaine carrier BetP of Corynebacterium glutamicum. FEBS Lett. 2004;563:108-12 pubmed
    ..We conclude that activation of BetP in proteoliposomes depends solely on K(+), both in mechanistic and in physiological terms. ..
  44. Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey L, Yarema K, et al. The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett. 2004;566:105-9 pubmed
    ..Nevertheless, no reduced cellular sialylation was found in those cells by colorimetric assays and lectin analysis, indicating that HIBM is not directly caused by an altered overall expression of sialic acids. ..
  45. Gu W, Kofler M, Antes I, Freund C, Helms V. Alternative binding modes of proline-rich peptides binding to the GYF domain. Biochemistry. 2005;44:6404-15 pubmed
    ..Possible functional implications of this altered conformation of the bound ligand are discussed in the light of our experimental and theoretical results. ..
  46. Denker K, Orlik F, Schiffler B, Benz R. Site-directed mutagenesis of the greasy slide aromatic residues within the LamB (maltoporin) channel of Escherichia coli: effect on ion and maltopentaose transport. J Mol Biol. 2005;352:534-50 pubmed
    ..For most mutants, k1 decreased and k(-1) increased. The possible influence of the aromatic residues of the greasy slide on carbohydrate and ion transport through LamB is discussed. ..
  47. Hasselmann M, Gempe T, Schi tt M, Nunes Silva C, Otte M, Beye M. Evidence for the evolutionary nascence of a novel sex determination pathway in honeybees. Nature. 2008;454:519-22 pubmed publisher
    ..The fem locus in bees uncovers gene duplication and positive selection as evolutionary mechanisms underlying the origin of a novel sex determination pathway...
  48. Gloeckner C, Schumacher A, Boldt K, Ueffing M. The Parkinson disease-associated protein kinase LRRK2 exhibits MAPKKK activity and phosphorylates MKK3/6 and MKK4/7, in vitro. J Neurochem. 2009;109:959-68 pubmed publisher
    ..Our findings present evidence of a new class of molecular targets for mutant LRRK2 that link to neurotoxicity, cellular stress, cytoskeletal dynamics and vesicular transport. ..
  49. Herzog B, Streckfuss Bömeke K, Braus G. A feedback circuit between transcriptional activation and self-destruction of Gcn4 separates its metabolic and morphogenic response in diploid yeasts. J Mol Biol. 2011;405:909-25 pubmed publisher
    ..This self-controlled buffer system to restrict transcriptional activity results in a reciprocal correlation between Gcn4 transcriptional activity and protein stability. ..
  50. Siddique A, Jurkowska R, Jurkowski T, Jeltsch A. Auto-methylation of the mouse DNA-(cytosine C5)-methyltransferase Dnmt3a at its active site cysteine residue. FEBS J. 2011;278:2055-63 pubmed publisher
    ..Dnmt3a is a DNA-(cytosine C5)-methyltransferase, EC 2.1.1.37. • Dnmt3a methylates Dnmt3a by methyltransferase assay (View interaction) • Dnmt3a and DNMT3L methylate Dnmt3a by methyltransferase assay (View interaction). ..
  51. Dietrich S, Borst N, Schlee S, Schneider D, Janda J, Sterner R, et al. Experimental assessment of the importance of amino acid positions identified by an entropy-based correlation analysis of multiple-sequence alignments. Biochemistry. 2012;51:5633-41 pubmed
    ..Our findings demonstrate that positions with high conn(k) values have an increased probability of being important for enzyme function or stability. ..
  52. Fiebig J, Weidauer S, Qiu L, Bauer M, Schmieder P, Beerbaum M, et al. The clip-segment of the von Willebrand domain 1 of the BMP modulator protein Crossveinless 2 is preformed. Molecules. 2013;18:11658-82 pubmed publisher
    ..Here we present the NMR structure of the Danio rerio CV2 VWC1 domain in its unbound state showing that the key features for high affinity binding to BMP-2 is a pre-oriented peptide loop. ..
  53. Koehler A, Hubert K, Lange T, Siebolts U, Wickenhauser C, Gopalakrishna P, et al. JAK2V617F molecular remission in a primary myelofibrosis patient treated with ruxolitinib. Ann Hematol. 2015;94:1929-30 pubmed publisher
  54. Mega J, Close S, Wiviott S, Man M, Duvvuru S, Walker J, et al. PON1 Q192R genetic variant and response to clopidogrel and prasugrel: pharmacokinetics, pharmacodynamics, and a meta-analysis of clinical outcomes. J Thromb Thrombolysis. 2016;41:374-83 pubmed publisher
    ..The meta-analysis reinforced a lack of a significant association between Q192R and cardiovascular outcomes in clopidogrel-treated patients. ..
  55. Terziyska N, Grumbt B, Kozany C, Hell K. Structural and functional roles of the conserved cysteine residues of the redox-regulated import receptor Mia40 in the intermembrane space of mitochondria. J Biol Chem. 2009;284:1353-63 pubmed publisher
    ..Furthermore, the disulfide bond in the CPC segment mediates the redox reactions with the thiol oxidase Erv1 and substrate proteins in mitochondria. ..
  56. Strobel A, Zimmermann J, Schmitz A, Reuter M, Lis S, Windmann S, et al. Beyond revenge: neural and genetic bases of altruistic punishment. Neuroimage. 2011;54:671-80 pubmed publisher
    ..The overall pattern of results suggests a common cognitive-affective-motivational network as the driving force for altruistic punishment, with only quantitative differences between first person and third party perspectives. ..
  57. Helmstaedt K, Heinrich G, Lipscomb W, Braus G. Refined molecular hinge between allosteric and catalytic domain determines allosteric regulation and stability of fungal chorismate mutase. Proc Natl Acad Sci U S A. 2002;99:6631-6 pubmed
    ..These results underline the crucial role of this molecular hinge for inhibition, activation, quaternary structure, and stability of yeast chorismate mutase. ..
  58. Kuehl H, Caselitz M, Hasenkamp S, Wagner S, El Harith E, Manns M, et al. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat. 2005;25:320 pubmed
    ..In this study, we have identified five novel ALK1 and one ENG disease-causing mutations. We conclude that hepatic manifestation in HHT patients is associated with mutations in the ALK1 gene, but rarely with ENG mutations. ..
  59. Beissner M, Dutertre S, Schemm R, Danker T, Sporning A, Grubmuller H, et al. Efficient binding of 4/7 ?-conotoxins to nicotinic ?4?2 receptors is prevented by Arg185 and Pro195 in the ?4 subunit. Mol Pharmacol. 2012;82:711-8 pubmed
    ..Molecular dynamics simulations of homology models with docked ?-conotoxin indicate that these residues control access to the ?-conotoxin binding site. ..
  60. Klockgether J, Miethke N, Kubesch P, Bohn Y, Brockhausen I, Cramer N, et al. Intraclonal diversity of the Pseudomonas aeruginosa cystic fibrosis airway isolates TBCF10839 and TBCF121838: distinct signatures of transcriptome, proteome, metabolome, adherence and pathogenicity despite an almost identical genome sequence. Environ Microbiol. 2013;15:191-210 pubmed publisher
    ..Microevolution in P. aeruginosa apparently can generate novel complex traits by few or even single mutations provided that predisposing mutational events had occurred before in the clonal lineage...
  61. Blaesing F, Weigel C, Welzeck M, Messer W. Analysis of the DNA-binding domain of Escherichia coli DnaA protein. Mol Microbiol. 2000;36:557-69 pubmed
    ..dnaX suppressors dnaA71 and dnaA721 map to the region close to helix C and bind DNA non-specifically. ..
  62. Nebel A, Flachsbart F, Schäfer A, Nothnagel M, Nikolaus S, Mokhtari N, et al. Role of the toll-like receptor 4 polymorphism Asp299Gly in longevity and myocardial infarction in German men. Mech Ageing Dev. 2007;128:409-11 pubmed
    ..Therefore, the previously described associations in Sicilians might reflect either population-specific or potentially false-positive results. ..
  63. Sotlar K, Bache A, Stellmacher F, Bültmann B, Valent P, Horny H. Systemic mastocytosis associated with chronic idiopathic myelofibrosis: a distinct subtype of systemic mastocytosis associated with a [corrected] clonal hematological non-mast [corrected] cell lineage disorder carrying the activating point mutations . J Mol Diagn. 2008;10:58-66 pubmed publisher
    ..Altogether, these data suggest that KIT(D816V+) SM can co-exist with JAK2(V617F+) CIMF and that, in some of these SM-CIMF cases, the two mutations are present in the neoplastic cells of both disease components...
  64. Praml C, Schulz W, Claas A, Mollenhauer J, Poustka A, Ackermann R, et al. Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells. Cancer Lett. 2008;272:160-6 pubmed publisher
    ..Further population analyses and functional studies of the nine variants detected may show if these variants are disease-related. ..
  65. Roemisch J, Feussner A, Nerlich C, Stoehr H, Weimer T. The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). Blood Coagul Fibrinolysis. 2002;13:433-41 pubmed
    ..These results support the hypothesis that FSAP contributes to the scuPA-dependent plasma fibrinolytic potential, which can be impaired in plasmas containing the FSAP Marburg I polymorphism, for instance. ..
  66. Michalski C, Cui Y, Nies A, Nuessler A, Neuhaus P, Zanger U, et al. A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter. J Biol Chem. 2002;277:43058-63 pubmed
    ..Importantly, most of the mutant protein SLC21A6-L193R was retained intracellularly, and this single amino acid exchange abolished transport function. ..
  67. Mahalingam M, Vogel R. The all-trans-15-syn-retinal chromophore of metarhodopsin III is a partial agonist and not an inverse agonist. Biochemistry. 2006;45:15624-32 pubmed
  68. Burbano H, Hodges E, Green R, Briggs A, Krause J, Meyer M, et al. Targeted investigation of the Neandertal genome by array-based sequence capture. Science. 2010;328:723-5 pubmed publisher
    ..By generating the sequence of one Neandertal and 50 present-day humans at these positions, we have identified 88 amino acid substitutions that have become fixed in humans since our divergence from the Neandertals. ..
  69. Liedmann S, Hrincius E, Anhlan D, McCullers J, Ludwig S, Ehrhardt C. New virulence determinants contribute to the enhanced immune response and reduced virulence of an influenza A virus A/PR8/34 variant. J Infect Dis. 2014;209:532-41 pubmed publisher
    ..Thus, PB1 and PA appear to harbor previously unknown virulence markers, which may prove helpful in assessing the risk potential of emerging influenza viruses. ..
  70. Sock E, Pagon R, Keymolen K, Lissens W, Wegner M, Scherer G. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet. 2003;12:1439-47 pubmed
    ..These findings establish the dimerization domain as the third domain essential for SOX9 function during chondrogenesis. ..
  71. Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner Schäfer H, et al. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003;61:232-5 pubmed
  72. Grahnert A, Friedrich M, Engeland K, Hauschildt S. Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements. Biochim Biophys Acta. 2005;1730:173-86 pubmed
    ..Thus, alternative splicing and the use of regulatory elements in the 5'UTR and 3'UTR represent means to control ART4 expression. ..
  73. Handschuh G, Luber B, Hutzler P, Hofler H, Becker K. Single amino acid substitutions in conserved extracellular domains of E-cadherin differ in their functional consequences. J Mol Biol. 2001;314:445-54 pubmed
    ..Since multiple DXXD motifs are typically seen in other cadherins, our structure-function study is relevant for this gene family in general. ..
  74. Kolzer M, Ferlinz K, Bartelsen O, Hoops S, Lang F, Sandhoff K. Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase. Biol Chem. 2004;385:1193-5 pubmed
  75. Wiegeshoff F, Marahiel M. Characterization of a mutation in the acetolactate synthase of Bacillus subtilis that causes a cold-sensitive phenotype. FEMS Microbiol Lett. 2007;272:30-4 pubmed
    ..This results in an amino acid substitution from lysine at position 176 to glycine. As a consequence, the acetolactate synthase efficiency in strain JH642 was found to be reduced by 51-fold. ..
  76. Ivanova O, Braas D, Klempnauer K. Oncogenic point mutations in the Myb DNA-binding domain alter the DNA-binding properties of Myb at a physiological target gene. Nucleic Acids Res. 2007;35:7237-47 pubmed
    ..Our data demonstrate for the first time that oncogenic activation of Myb alters its DNA-binding specificity at a physiological Myb target gene. ..
  77. Schulze U, Vollenbröker B, Kühnl A, Granado D, Bayraktar S, Rescher U, et al. Cellular vacuolization caused by overexpression of the PIKfyve-binding deficient Vac14L156R is rescued by starvation and inhibition of vacuolar-ATPase. Biochim Biophys Acta Mol Cell Res. 2017;1864:749-759 pubmed publisher
    ..Taken together, our data give new hints to potential therapeutic targets in the treatment of disease linked to intracellular vacuolization. ..
  78. Becker H, Deitmer J. Carbonic anhydrase II increases the activity of the human electrogenic Na+/HCO3- cotransporter. J Biol Chem. 2007;282:13508-21 pubmed
    ..Our results show that the transport capacity of NBCe1 is enhanced by the catalytic activity of CAII, in line with the notion that CAII forms a transport metabolon with NBCe1. ..
  79. Kuhse J, Kalbouneh H, Schlicksupp A, Mükusch S, Nawrotzki R, Kirsch J. Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin. J Biol Chem. 2012;287:30952-66 pubmed publisher
    ..These data indicate that collybistin and cyclin-dependent kinases are involved in regulating the phosphorylation of gephyrin at postsynaptic membrane specializations. ..
  80. Goettig P, Brandstetter H, Groll M, G hring W, Konarev P, Svergun D, et al. X-ray snapshots of peptide processing in mutants of tricorn-interacting factor F1 from Thermoplasma acidophilum. J Biol Chem. 2005;280:33387-96 pubmed publisher
    ..Moreover, small angle x-ray scattering measurements for tricorn and inhibited F1 have been interpreted as formation of transient and substrate-induced complexes...
  81. Selz Y, Braasch I, Hoffmann C, Schmidt C, Schultheis C, Schartl M, et al. Evolution of melanocortin receptors in teleost fish: the melanocortin type 1 receptor. Gene. 2007;401:114-22 pubmed publisher
    ..Protein sequence comparison between fish and mammalian Mc1r revealed a remarkable concordance between evolutionary and functional analyses for the identification of residues and regions critical for receptor function...
  82. van der Linde K, Gutsche N, Leffers H, Lindermayr C, Müller B, Holtgrefe S, et al. Regulation of plant cytosolic aldolase functions by redox-modifications. Plant Physiol Biochem. 2011;49:946-57 pubmed publisher
    ..Nuclear localization of cAld2 and interaction with thioredoxins was shown by transient expression of fusion constructs with fluorescent proteins in isolated protoplasts. ..
  83. Beck J, Vogel M, Nassal M. dNTP versus NTP discrimination by phenylalanine 451 in duck hepatitis B virus P protein indicates a common structure of the dNTP-binding pocket with other reverse transcriptases. Nucleic Acids Res. 2002;30:1679-87 pubmed
    ..Because the function of the discriminatory residue depends on its specific spatial disposition this strongly suggests a similar architecture for the P protein dNTP-binding pocket as in other RTs. ..
  84. Scheerer P, Borchert A, Krauss N, Wessner H, Gerth C, Hohne W, et al. Structural basis for catalytic activity and enzyme polymerization of phospholipid hydroperoxide glutathione peroxidase-4 (GPx4). Biochemistry. 2007;46:9041-9 pubmed
    ..Site-directed mutagenesis suggested involvement of the catalytic C46 and surface exposed C10 and C66 in polymer formation. In GPx4 crystals, these residues contact adjacent protein monomers. ..
  85. Wobbe L, Blifernez O, Schwarz C, Mussgnug J, Nickelsen J, Kruse O. Cysteine modification of a specific repressor protein controls the translational status of nucleus-encoded LHCII mRNAs in Chlamydomonas. Proc Natl Acad Sci U S A. 2009;106:13290-5 pubmed publisher
    ..In summary, this work is an example that cytosolic translation of nucleus encoded photosynthetic genes is regulated via a reversible cysteine-based redox switch in a RNA-binding translation repressor protein...
  86. Jaeger V, Hoppe S, Petermann P, Liebig T, Jansen M, Renn T, et al. Herpes simplex virus type 1 entry into epithelial MDCKII cells: role of VASP activities. J Gen Virol. 2010;91:2152-7 pubmed publisher
    ..We conclude that VASP activities alone may contribute to herpes simplex virus infection to only a minor extent...
  87. Wedderhoff I, Kursula I, Groves M, Ortiz de Orué Lucana D. Iron binding at specific sites within the octameric HbpS protects streptomycetes from iron-mediated oxidative stress. PLoS ONE. 2013;8:e71579 pubmed publisher
  88. Conrad S, Kauffmann H, Ito K, Deeley R, Cole S, Schrenk D. Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. J Hum Genet. 2001;46:656-63 pubmed
    ..Transport of the MRP1 substrates leukotriene C4, 17beta-estradiol 17beta-(D)-glucuronide, and estrone sulfate by membrane vesicles prepared from transiently transfected HEKSV293T cells was comparable to that of wild-type MRP1...
  89. Maier R, Scholz C, Schmid F. Dynamic association of trigger factor with protein substrates. J Mol Biol. 2001;314:1181-90 pubmed
    ..In the absence of trigger factor, folding is retarded and more aggregates form, which can neither be prevented nor disposed of when DnaK is lacking as well. ..
  90. Kazantzis A, Waldner M, Taylor J, Kapurniotu A. Conformationally constrained human calcitonin (hCt) analogues reveal a critical role of sequence 17-21 for the oligomerization state and bioactivity of hCt. Eur J Biochem. 2002;269:780-91 pubmed
    ..These results may assist to delineate the structure-function relationships of hCt and to design novel hCt agonists for the treatment of osteoporosis and other bone-disorder-related diseases. ..
  91. Linster M, van Boheemen S, de Graaf M, Schrauwen E, Lexmond P, Mänz B, et al. Identification, characterization, and natural selection of mutations driving airborne transmission of A/H5N1 virus. Cell. 2014;157:329-339 pubmed publisher
  92. Kaeser S, Herzig M, Coomaraswamy J, Kilger E, Selenica M, Winkler D, et al. Cystatin C modulates cerebral beta-amyloidosis. Nat Genet. 2007;39:1437-9 pubmed
    ..Our results suggest that cystatin C concentrations modulate cerebral amyloidosis risk and provide an opportunity for genetic risk assessment and therapeutic interventions. ..