Genomes and Genes
Experts and Doctors on mutation in Switzerland
Publications377 found, 100 shown here
- Truninger K, Schmid P, Hoffmann M, Bertschinger P, Ammann R. Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome. Pancreas. 2006;32:215-9 pubmed..Thus, the chylomicronemia syndrome may cause CP in the absence of other known causative factors, and similar to alcoholic and hereditary CP, a more severe disease course is associated with disease progression. ..
- Murisier F, Guichard S, Beermann F. Distinct distal regulatory elements control tyrosinase expression in melanocytes and the retinal pigment epithelium. Dev Biol. 2007;303:838-47 pubmed..The identification of this novel element demonstrates that tyrosinase gene expression is controlled by separate distal regulatory sequences in melanocytes and RPE. ..
- Ghugtyal V, Vionnet C, Roubaty C, Conzelmann A. CWH43 is required for the introduction of ceramides into GPI anchors in Saccharomyces cerevisiae. Mol Microbiol. 2007;65:1493-502 pubmed..Ceramide remodelling is not required for the normal integration of GPI proteins into the cell wall. All remodelling reactions are dependent on prior removal of the inositol-linked fatty acid by Bst1p. ..
- Hortensteiner S. Stay-green regulates chlorophyll and chlorophyll-binding protein degradation during senescence. Trends Plant Sci. 2009;14:155-62 pubmed publisher..Their activity is considered as a prerequisite for both chlorophyll and apoprotein degradation during senescence. ..
- Meskauskiene R, Würsch M, Laloi C, Vidi P, Coll N, Kessler F, et al. A mutation in the Arabidopsis mTERF-related plastid protein SOLDAT10 activates retrograde signaling and suppresses (1)O(2)-induced cell death. Plant J. 2009;60:399-410 pubmed publisher..The results of this work reveal the unexpected complexity of what is commonly referred to as 'plastid signaling'. ..
- Karg S, Frey A, Kallio P. Reduction of N-linked xylose and fucose by expression of rat beta1,4-N-acetylglucosaminyltransferase III in tobacco BY-2 cells depends on Golgi enzyme localization domain and genetic elements used for expression. J Biotechnol. 2010;146:54-65 pubmed publisher..The changes in N-glycosylation observed were dependent on the catalytic activity of GnTIII, as the expression of catalytically inactive GnTIII mutants did not show a significant effect on N-glycosylation. ..
- Scacchi E, Salinas P, Gujas B, Santuari L, Krogan N, Ragni L, et al. Spatio-temporal sequence of cross-regulatory events in root meristem growth. Proc Natl Acad Sci U S A. 2010;107:22734-9 pubmed publisher..The complex equilibrium of this regulatory module might represent a universal switch in the transition toward differentiation in various developmental contexts...
- Roknic N, Huber A, Hegemann S, Hausler R, Gürtler N. Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. Acta Otolaryngol. 2012;132:1061-5 pubmed..The study was supported in part by the Emilia-Guggenheim-Schnurr-Foundation, Basel, Switzerland. ..
- Occhipinti L, Chang Y, Altvater M, Menet A, Kemmler S, Panse V. Non-FG mediated transport of the large pre-ribosomal subunit through the nuclear pore complex by the mRNA export factor Gle2. Nucleic Acids Res. 2013;41:8266-79 pubmed publisher..We propose that large complex cargos rely on non-FG as well as FG-interactions for their efficient translocation through the nuclear pore complex channel. ..
- Basler K, Hafen E. Control of photoreceptor cell fate by the sevenless protein requires a functional tyrosine kinase domain. Cell. 1988;54:299-311 pubmed..A single amino acid substitution in the ATP-binding site of the putative kinase domain results in the synthesis of an inactive sev protein unable to determine cell fate. ..
- Nardelli D, van het Schip F, Gerber Huber S, Haefliger J, Gruber M, Ab G, et al. Comparison of the organization and fine structure of a chicken and a Xenopus laevis vitellogenin gene. J Biol Chem. 1987;262:15377-85 pubmed..On the basis of these observations, we discuss the possible mechanism of evolution of phosvitin in vertebrates. ..
- Gutjahr T, Vanario Alonso C, Pick L, Noll M. Multiple regulatory elements direct the complex expression pattern of the Drosophila segmentation gene paired. Mech Dev. 1994;48:119-28 pubmed..Regulation during separate but overlapping phases of expression by separable regulatory regions might be a general characteristic of segmentation genes. ..
- Haucke V, Horst M, Schatz G, Lithgow T. The Mas20p and Mas70p subunits of the protein import receptor of yeast mitochondria interact via the tetratricopeptide repeat motif in Mas20p: evidence for a single hetero-oligomeric receptor. EMBO J. 1996;15:1231-7 pubmed..We conclude that the two receptor subcomplexes of the mitochondrial protein import receptor interact in vivo via their Mas20p and Mas70p subunits and that this interaction is functionally important. ..
- Salimova E, Sohrmann M, Fournier N, Simanis V. The S. pombe orthologue of the S. cerevisiae mob1 gene is essential and functions in signalling the onset of septum formation. J Cell Sci. 2000;113 ( Pt 10):1695-704 pubmed..We also demonstrate that mob1p can be precipitated from cells in a complex with the septation regulating kinase sid2p. ..
- Esposito I, Friess H, Buchler M. Carcinogenesis of cancer of the papilla and ampulla: pathophysiological facts and molecular biological mechanisms. Langenbecks Arch Surg. 2001;386:163-71 pubmed..Ampullary cancer has one of the highest resectability rates and best prognoses among neoplasms arising in the periampullary region...
- Hirth F, Loop T, Egger B, Miller D, Kaufman T, Reichert H. Functional equivalence of Hox gene products in the specification of the tritocerebrum during embryonic brain development of Drosophila. Development. 2001;128:4781-8 pubmed..This suggests that in embryonic brain development, differences in Hox gene action rely mainly on cis-acting regulatory elements and not on Hox protein specificity. ..
- Marti T, Mansour A, Lehmann E, Fleck O. Different frameshift mutation spectra in non-repetitive DNA of MutSalpha- and MutLalpha-deficient fission yeast cells. DNA Repair (Amst). 2003;2:571-80 pubmed..Such duplications were less frequent in double mutants additionally defective in msh2, msh6, rad2, or exo1. Thus, accumulation of (CG)(2) in MutLalpha-deficient strains depends on the presence of MutSalpha, Rad2 and Exo1. ..
- Baumberger N, Steiner M, Ryser U, Keller B, Ringli C. Synergistic interaction of the two paralogous Arabidopsis genes LRX1 and LRX2 in cell wall formation during root hair development. Plant J. 2003;35:71-81 pubmed..Our results indicate that LRX1 and LRX2 have overlapping functions in root hair formation, and that they likely regulate cell morphogenesis by promoting proper development of the cell wall. ..
- Chowdhury S, Ragaz C, Kreuger E, Narberhaus F. Temperature-controlled structural alterations of an RNA thermometer. J Biol Chem. 2003;278:47915-21 pubmed..Temperature perception by the sensory RNA is an ordered process that most likely occurs without the aid of accessory factors. ..
- Amrein H, Makart S, Granado J, Shakya R, Schneider Pokorny J, Dudler R. Functional analysis of genes involved in the synthesis of syringolin A by Pseudomonas syringae pv. syringae B301 D-R. Mol Plant Microbe Interact. 2004;17:90-7 pubmed publisher..The structure and arrangement of the modules lead to the formulation of a model explaining the synthesis of the tripeptide, including the formation of the two nonproteinogenic amino acids in the ring structure of syringolin A...
- Sprecher S, Urbach R, Technau G, Rijli F, Reichert H, Hirth F. The columnar gene vnd is required for tritocerebral neuromere formation during embryonic brain development of Drosophila. Development. 2006;133:4331-9 pubmed..Taken together, our results indicate that vnd is required for the genesis and proper identity specification of tritocerebral neural lineages during embryonic brain development of Drosophila. ..
- Trzebiatowska A, Topf U, Sauder U, Drabikowski K, Chiquet Ehrismann R. Caenorhabditis elegans teneurin, ten-1, is required for gonadal and pharyngeal basement membrane integrity and acts redundantly with integrin ina-1 and dystroglycan dgn-1. Mol Biol Cell. 2008;19:3898-908 pubmed publisher..We conclude that TEN-1 is important for basement membrane maintenance and/or adhesion in particular organs and affects the function of somatic gonad precursor cells. ..
- Hua H, Georgiev O, Schaffner W, Steiger D. Human copper transporter Ctr1 is functional in Drosophila, revealing a high degree of conservation between mammals and insects. J Biol Inorg Chem. 2010;15:107-13 pubmed publisher..These findings reveal a high level of conservation between the mammalian and insect Ctr1-type copper importers, and they also demonstrate that the Drosophila Ctr1 proteins are functionally interchangeable. ..
- Goetze S, Qeli E, Mosimann C, Staes A, Gerrits B, Roschitzki B, et al. Identification and functional characterization of N-terminally acetylated proteins in Drosophila melanogaster. PLoS Biol. 2009;7:e1000236 pubmed publisher..Since the (X)PX rule seems to be of general validity in lower as well as higher eukaryotes, we propose that it can be used to study the function of N-terminal acetylation in all species. ..
- Schärer M, Eliot A, Grutter M, Capitani G. Structural basis for reduced activity of 1-aminocyclopropane-1-carboxylate synthase affected by a mutation linked to andromonoecy. FEBS Lett. 2011;585:111-4 pubmed publisher..We present here a straightforward structural basis for the reduced activity of the A57V mutant, based on our work on Malus domestica ACS, including a new structure of the unliganded apple enzyme at 1.35Å resolution. ..
- De Iaco A, Luban J. Inhibition of HIV-1 infection by TNPO3 depletion is determined by capsid and detectable after viral cDNA enters the nucleus. Retrovirology. 2011;8:98 pubmed publisher..TNPO3 promotes HIV-1 infectivity at a step in the virus life cycle that is detectable after the preintegration complex arrives in the nucleus and CA is the viral determinant for TNPO3 dependence. ..
- Dal Grande F, Widmer I, Wagner H, Scheidegger C. Vertical and horizontal photobiont transmission within populations of a lichen symbiosis. Mol Ecol. 2012;21:3159-72 pubmed publisher..This implies that, even in a mostly vegetatively reproducing species, horizontal transmission plays a role in shaping the symbiotic association, as shown in many coral and other symbioses in nature...
- Muller J, Bienz M. Long range repression conferring boundaries of Ultrabithorax expression in the Drosophila embryo. EMBO J. 1991;10:3147-55 pubmed..We conclude that PBX and ABX are recognized by repressors which act across large distances to suppress BXD activity. Stable and heritable Ubx expression boundaries are thus mediated by this process of long range repression. ..
- Lienhard M, Stocker R. The development of the sensory neuron pattern in the antennal disc of wild-type and mutant (lz3, ssa) Drosophila melanogaster. Development. 1991;112:1063-75 pubmed..This suggests that neither larval leg neurons nor early aristal neurons are essential for the outgrowth of subsequent afferents. ..
- Gratzer S, Lithgow T, Bauer R, Lamping E, Paltauf F, Kohlwein S, et al. Mas37p, a novel receptor subunit for protein import into mitochondria. J Cell Biol. 1995;129:25-34 pubmed
- Cao Y, Wagner J, Hindmarsh P, Eble A, Mullis P. Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. Pediatr Res. 1995;38:962-6 pubmed..Although gross structural abnormalities in the whole gene have been ruled out in this study, mutations in the carboxyl terminus are still possible, and, therefore, the remaining part of the gene needs to be sequenced. ..
- Scherer Oppliger T, Leimbacher W, Blau N, Thony B. Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem. 1999;274:31341-8 pubmed..These results suggest that Ser(19) of human PTPS may be a substrate for cGKII phosphorylation also in vivo, a modification that is essential for normal activity. ..
- Paszkowski U, Boller T. The growth defect of lrt1, a maize mutant lacking lateral roots, can be complemented by symbiotic fungi or high phosphate nutrition. Planta. 2002;214:584-90 pubmed..Supply of high phosphate (1 microM) ameliorated the growth of lrt1 plants too, but less efficiently than the symbiosis did. Hence, arbuscular mycorrhizal fungi as well as phosphate functionally complemented the lrt1 mutation. ..
- Kopp C, Albrecht U, Zheng B, Tobler I. Homeostatic sleep regulation is preserved in mPer1 and mPer2 mutant mice. Eur J Neurosci. 2002;16:1099-106 pubmed..The results provide further evidence for the independence of the circadian and the homeostatic components underlying sleep regulation. ..
- Auberson M, Hoffmann Pochon N, Vandewalle A, Kellenberger S, Schild L. Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin. Am J Physiol Renal Physiol. 2003;285:F459-71 pubmed
- Mesa S, Bedmar E, Chanfon A, Hennecke H, Fischer H. Bradyrhizobium japonicum NnrR, a denitrification regulator, expands the FixLJ-FixK2 regulatory cascade. J Bacteriol. 2003;185:3978-82 pubmed..Thus, NnrR expands the FixLJ-FixK(2) regulatory cascade by an additional control level which integrates the N oxide signal required for maximal induction of the denitrification genes. ..
- Molinier J, Ramos C, Fritsch O, Hohn B. CENTRIN2 modulates homologous recombination and nucleotide excision repair in Arabidopsis. Plant Cell. 2004;16:1633-43 pubmed..These findings thus point to a novel interconnection between an early step of NER and homologous recombination, which may play a critical role in plant DNA repair. ..
- Schick N, Oakeley E, Hynes N, Badache A. TEL/ETV6 is a signal transducer and activator of transcription 3 (Stat3)-induced repressor of Stat3 activity. J Biol Chem. 2004;279:38787-96 pubmed..Intriguingly, Stat3 repression did not require TEL DNA binding and appeared to proceed via recruitment of TEL to Stat3. Inhibition of Stat3 activity by TEL represents a novel mechanism regulating the Stat3 signaling pathway. ..
- Delatte T, Trevisan M, Parker M, Zeeman S. Arabidopsis mutants Atisa1 and Atisa2 have identical phenotypes and lack the same multimeric isoamylase, which influences the branch point distribution of amylopectin during starch synthesis. Plant J. 2005;41:815-30 pubmed..We conclude that the AtISA1/AtISA2 isoamylase influences glucan branching pattern, but that this may not be the primary determinant of partitioning between crystalline starch and soluble phytoglycogen. ..
- Künzler D, Sasso S, Gamper M, Hilvert D, Kast P. Mechanistic insights into the isochorismate pyruvate lyase activity of the catalytically promiscuous PchB from combinatorial mutagenesis and selection. J Biol Chem. 2005;280:32827-34 pubmed..The experiments demonstrate that focusing directed evolution strategies on the readily accessible surrogate activity of an enzyme can provide valuable insights into the mechanism of the primary reaction. ..
- Baehler E, de Werra P, Wick L, Péchy Tarr M, Mathys S, Maurhofer M, et al. Two novel MvaT-like global regulators control exoproduct formation and biocontrol activity in root-associated Pseudomonas fluorescens CHA0. Mol Plant Microbe Interact. 2006;19:313-29 pubmed
- Zurbriggen S, Tobler K, Abril C, Diedrich S, Ackermann M, Pallansch M, et al. Isolation of sabin-like polioviruses from wastewater in a country using inactivated polio vaccine. Appl Environ Microbiol. 2008;74:5608-14 pubmed publisher..Nevertheless, the continuous introduction of polioviruses into the community emphasizes the necessity for uninterrupted child vaccination to maintain high herd immunity. ..
- Woycechowsky K, Choutko A, Vamvaca K, Hilvert D. Relative tolerance of an enzymatic molten globule and its thermostable counterpart to point mutation. Biochemistry. 2008;47:13489-96 pubmed publisher..Thus, in many cases, it may be more productive to focus on changes in local conformation than on global stability when attempting to understand and predict how enzymes respond to point mutations. ..
- Bargeton B, Kellenberger S. The contact region between three domains of the extracellular loop of ASIC1a is critical for channel function. J Biol Chem. 2010;285:13816-26 pubmed publisher..4 to 6.8, suggesting that this zone undergoes conformational changes during inactivation. Our study identifies a region in ASIC1a whose integrity is required for normal channel function. ..
- Bühler D, Rossmann R, Landolt S, Balsiger S, Fischer H, Hennecke H. Disparate pathways for the biogenesis of cytochrome oxidases in Bradyrhizobium japonicum. J Biol Chem. 2010;285:15704-13 pubmed publisher..We hypothesize that a periplasmic B. japonicum protein other than any of the identified Cu(A) proteins depends on ScoI and is required for an effective symbiosis. ..
- Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner M. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Hum Mol Genet. 2012;21:1410-8 pubmed publisher..Accordingly, western blot studies reveal proteins of the size expected from the stop codon position with subsequent reinitiation of translation. ..
- Piccapietra F, Allué C, Sigg L, Behra R. Intracellular silver accumulation in Chlamydomonas reinhardtii upon exposure to carbonate coated silver nanoparticles and silver nitrate. Environ Sci Technol. 2012;46:7390-7 pubmed publisher..The bioavailability of AgNP was calculated to be low in both strains relative to Ag(+), suggesting that AgNP internalization across the cell membrane was limited...
- Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674-82 pubmed publisher..German Ministry of Education and Research, European Commission 7th Framework Program, and Swiss National Science Foundation. ..
- Zhang J, Baetz U, Krügel U, Martinoia E, De Angeli A. Identification of a probable pore-forming domain in the multimeric vacuolar anion channel AtALMT9. Plant Physiol. 2013;163:830-43 pubmed publisher..We suggest that AtALMT9 is a tetramer and that the TM?5 domains of the subunits contribute to form the pore of this anion channel. ..
- Cowan S, Schirmer T, Rummel G, Steiert M, Ghosh R, Pauptit R, et al. Crystal structures explain functional properties of two E. coli porins. Nature. 1992;358:727-33 pubmed..The structures explain at the molecular level functional characteristics and their alterations by known mutations. ..
- Riesgo Escovar J, Hafen E. Drosophila Jun kinase regulates expression of decapentaplegic via the ETS-domain protein Aop and the AP-1 transcription factor DJun during dorsal closure. Genes Dev. 1997;11:1717-27 pubmed..Interestingly, in vertebrates, transforming growth factor-beta and c-Jun regulate collagenase gene expression during wound healing, a process that also involves the closing of an epithelial sheath. ..
- Narberhaus F, Weiglhofer W, Fischer H, Hennecke H. Identification of the Bradyrhizobium japonicum degP gene as part of an operon containing small heat-shock protein genes. Arch Microbiol. 1998;169:89-97 pubmed..Moreover, they were not affected in root-nodule symbiosis, indicating that the small heat-shock proteins HspB and HspC and the DegP homolog of B. japonicum are not required under a wide range of growth conditions. ..
- Zilian O, Frei E, Burke R, Brentrup D, Gutjahr T, Bryant P, et al. double-time is identical to discs overgrown, which is required for cell survival, proliferation and growth arrest in Drosophila imaginal discs. Development. 1999;126:5409-20 pubmed
- Ulm R, Revenkova E, Di Sansebastiano G, Bechtold N, Paszkowski J. Mitogen-activated protein kinase phosphatase is required for genotoxic stress relief in Arabidopsis. Genes Dev. 2001;15:699-709 pubmed
- Maier M, Berger P, Nave K, Suter U. Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves. Mol Cell Neurosci. 2002;20:93-109 pubmed
- Hajnal A, Berset T. The C.elegans MAPK phosphatase LIP-1 is required for the G(2)/M meiotic arrest of developing oocytes. EMBO J. 2002;21:4317-26 pubmed..LIP-1 thus coordinates oocyte cell cycle progression and maturation with ovulation and fertilization. ..
- Ebel C, Mariconti L, Gruissem W. Plant retinoblastoma homologues control nuclear proliferation in the female gametophyte. Nature. 2004;429:776-80 pubmed..Thus, RBR1 has a novel and previously unrecognized function in cell cycle control during gametogenesis and in the repression of autonomous endosperm development. ..
- Leuenberger M, Frigerio S, Wild P, Noetzli F, Korol D, Zimmermann D, et al. AID protein expression in chronic lymphocytic leukemia/small lymphocytic lymphoma is associated with poor prognosis and complex genetic alterations. Mod Pathol. 2010;23:177-86 pubmed publisher..Furthermore, the microenvironment of proliferation centers seems to influence AID regulation and might be an initiating factor in its transformation. ..
- van Loon B, Markkanen E, Hubscher U. Oxygen as a friend and enemy: How to combat the mutational potential of 8-oxo-guanine. DNA Repair (Amst). 2010;9:604-16 pubmed publisher..Here we review the importance of accurate BER of 8-oxo-G damage and its regulation in prevention of cancer. ..
- Heijde M, Ulm R. Reversion of the Arabidopsis UV-B photoreceptor UVR8 to the homodimeric ground state. Proc Natl Acad Sci U S A. 2013;110:1113-8 pubmed publisher..Our results identify a key role of RUP1- and RUP2-mediated UVR8 redimerization in photoreceptor inactivation, a crucial process that regenerates reactivatable UVR8 homodimers. ..
- Medcalf R, Ruegg M, Schleuning W. A DNA motif related to the cAMP-responsive element and an exon-located activator protein-2 binding site in the human tissue-type plasminogen activator gene promoter cooperate in basal expression and convey activation by phorbol ester and cAMP. J Biol Chem. 1990;265:14618-26 pubmed..The results of band-shift analysis and competition titration experiments demonstrate that the CRE-like element acts as a low affinity binding site for the same proteins which recognize the authentic CRE. ..
- Miyazaki T, Muller U, Campbell K. Normal development but differentially altered proliferative responses of lymphocytes in mice lacking CD81. EMBO J. 1997;16:4217-25 pubmed
- Blondel M, Galan J, Peter M. Isolation and characterization of HRT1 using a genetic screen for mutants unable to degrade Gic2p in saccharomyces cerevisiae. Genetics. 2000;155:1033-44 pubmed..Taken together, these results suggest that Hrt1p is a core subunit of multiple SCF complexes. ..
- Nienaber A, Hennecke H, Fischer H. Discovery of a haem uptake system in the soil bacterium Bradyrhizobium japonicum. Mol Microbiol. 2001;41:787-800 pubmed..An A/T-rich cis-acting element, located in the promoter region of the divergently transcribed hmuTUV and hmuR genes, is possibly required for this type of iron control...
- Herault Y, Kmita M, Sawaya C, Duboule D. A nested deletion approach to generate Cre deleter mice with progressive Hox profiles. Int J Dev Biol. 2002;46:185-91 pubmed..We used the R26R (R26R) reporter mouse line to functionally assess the distribution and efficiency of the CRE enzyme and discuss the usefulness of these various lines as deleter strains. ..
- Gebbie L, Benghezal M, Cornillon S, Froquet R, Cherix N, Malbouyres M, et al. Phg2, a kinase involved in adhesion and focal site modeling in Dictyostelium. Mol Biol Cell. 2004;15:3915-25 pubmed..This study establishes a functional hierarchy in the roles of Phg1, Phg2, myosinVII, and talin in cellular adhesion, actin cytoskeleton organization, and motility. ..
- Kyburz A, Friedlein A, Langen H, Keller W. Direct interactions between subunits of CPSF and the U2 snRNP contribute to the coupling of pre-mRNA 3' end processing and splicing. Mol Cell. 2006;23:195-205 pubmed..Moreover, we showed that efficient cleavage required the presence of the U2 snRNA in coupled assays. We therefore propose that the interaction between CPSF and the U2 snRNP contributes to the coupling of splicing and 3' end formation. ..
- Singer P, Yee B, Feldon J, Iwasato T, Itohara S, Grampp T, et al. Altered mnemonic functions and resistance to N-METHYL-d-Aspartate receptor antagonism by forebrain conditional knockout of glycine transporter 1. Neuroscience. 2009;161:635-54 pubmed publisher..The relevance of this distinction to the design of future GlyT1 blockers as therapeutic tools in the treatment of cognitive disorders remains to be further investigated. ..
- Niemann A, Wagner K, Ruegg M, Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis. 2009;36:509-20 pubmed publisher..Thus, different cellular mechanisms that disturb mitochondrial dynamics underlie the similar clinical manifestations caused by GDAP1 mutations, depending on the mode of inheritance. ..
- Herrero Sanchez C, Reith W, Silacci P, Mach B. The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters. Mol Cell Biol. 1992;12:4076-83 pubmed..This report also illustrates the need for caution in correlating specific cloned proteins with nuclear factors identified by DNA-binding assays, particularly when dealing with families of related proteins. ..
- Kramer A, Legrain P, Mulhauser F, Gröning K, Brosi R, Bilbe G. Splicing factor SF3a60 is the mammalian homologue of PRP9 of S.cerevisiae: the conserved zinc finger-like motif is functionally exchangeable in vivo. Nucleic Acids Res. 1994;22:5223-8 pubmed..The chimeric protein rescues the temperature-sensitive phenotype of the prp9-1 mutant strain demonstrating that not only the structure but also the function of this domain has been conserved during evolution. ..
- Schnider U, Keel C, Voisard C, Defago G, Haas D. Tn5-directed cloning of pqq genes from Pseudomonas fluorescens CHA0: mutational inactivation of the genes results in overproduction of the antibiotic pyoluteorin. Appl Environ Microbiol. 1995;61:3856-64 pubmed..However, the Phl- phenotype of strain CHA625 was due not to the pqq defect but presumably to a secondary mutation. In conclusion, a lack of PQQ markedly stimulates the production of Plt in P. fluorescens. ..
- Nellen Anthamatten D, Rossi P, Preisig O, Kullik I, Babst M, Fischer H, et al. Bradyrhizobium japonicum FixK2, a crucial distributor in the FixLJ-dependent regulatory cascade for control of genes inducible by low oxygen levels. J Bacteriol. 1998;180:5251-5 pubmed..FixK2 also regulates its own structural gene, directly or indirectly, in a negative way...
- Jacobs H, Rajewsky K, Fukita Y, Bross L. Indirect and direct evidence for DNA double-strand breaks in hypermutating immunoglobulin genes. Philos Trans R Soc Lond B Biol Sci. 2001;356:119-25 pubmed..Our data suggest that DSBs are reaction intermediates of the mechanism underlying somatic hypermutation. ..
- Brunori M, Malerba M, Kashiwazaki H, Iggo R. Replicating adenoviruses that target tumors with constitutive activation of the wnt signaling pathway. J Virol. 2001;75:2857-65 pubmed
- Thome M, Gaide O, Micheau O, Martinon F, Bonnet D, Gonzalez M, et al. Equine herpesvirus protein E10 induces membrane recruitment and phosphorylation of its cellular homologue, bcl-10. J Cell Biol. 2001;152:1115-22 pubmed
- Yang Z, Tschopp O, Baudry A, Dummler B, Hynx D, Hemmings B. Physiological functions of protein kinase B/Akt. Biochem Soc Trans. 2004;32:350-4 pubmed..In this paper, we focus on the phenotypes of these PKB/Akt overexpression and mutant mice that may help to elucidate the functions exerted by PKB/Akt in mammals. ..
- Froquet R, Cherix N, Birke R, Benghezal M, Cameroni E, Letourneur F, et al. Control of cellular physiology by TM9 proteins in yeast and Dictyostelium. J Biol Chem. 2008;283:6764-72 pubmed publisher..These results suggest that in both yeast and amoebae, TM9 proteins participate in the control of specific cellular functions in response to changing nutrient conditions. ..
- Benke D, Barberis A, Kopp S, Altmann K, Schubiger M, Vogt K, et al. GABA A receptors as in vivo substrate for the anxiolytic action of valerenic acid, a major constituent of valerian root extracts. Neuropharmacology. 2009;56:174-81 pubmed publisher..In beta3 (N265M) point-mutated mice the anxiolytic activity of valerenic acid was absent. Thus, neurons expressing beta3 containing GABA(A) receptors are a major cellular substrate for the anxiolytic action of valerian extracts. ..
- Fischer D, Kley R, Strach K, Meyer C, Sommer T, Eger K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology. 2008;71:758-65 pubmed publisher..Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis. ..
- Stefanato F, Abou Mansour E, Buchala A, Kretschmer M, Mosbach A, Hahn M, et al. The ABC transporter BcatrB from Botrytis cinerea exports camalexin and is a virulence factor on Arabidopsis thaliana. Plant J. 2009;58:499-510 pubmed publisher..Here we demonstrate that an ABC transporter is a virulence factor that increases tolerance of the pathogen towards a phytoalexin, and the complete restoration of virulence on host plants lacking this phytoalexin. ..
- Rouached H, Secco D, Arpat B, Poirier Y. The transcription factor PHR1 plays a key role in the regulation of sulfate shoot-to-root flux upon phosphate starvation in Arabidopsis. BMC Plant Biol. 2011;11:19 pubmed publisher..PHR1 thus contributes to the homeostasis of both sulfate and phosphate in plants under phosphate deficiency. Such a function is also conserved in Chlamydomonas reinhardtii via the PHR1 ortholog PSR1. ..
- Wohlschlager T, Butschi A, Zurfluh K, Vonesch S, auf dem Keller U, Gehrig P, et al. Nematotoxicity of Marasmius oreades agglutinin (MOA) depends on glycolipid binding and cysteine protease activity. J Biol Chem. 2011;286:30337-43 pubmed publisher..Our results suggest that MOA is a fungal toxin with intriguing similarities to bacterial binary toxins and has a protective function against fungivorous soil nematodes. ..
- Heitz F, Erb M, Anklin C, Robay D, Pernet V, Gueven N. Idebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathy. PLoS ONE. 2012;7:e45182 pubmed publisher..These results support the pharmacological activity of idebenone and indicate that idebenone holds potential as an effective treatment for vision loss in LHON patients. ..
- Ivanov K, Agalarov Y, Valmu L, Samuilova O, Liebl J, Houhou N, et al. Phosphorylation regulates FOXC2-mediated transcription in lymphatic endothelial cells. Mol Cell Biol. 2013;33:3749-61 pubmed publisher..Collectively, our results point to the pivotal role of phosphorylation in the regulation of FOXC2-mediated transcription in lymphatic endothelial cells and underscore the importance of FOXC2 phosphorylation in vascular development. ..
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