Genomes and Genes
Experts and Doctors on mutation in Graz, Styria, Austria
Locale: Graz, Styria, Austria
- Fantur K, Wrodnigg T, Stütz A, Pabst B, Paschke E. Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease. J Inherit Metab Dis. 2012;35:495-503 pubmed publisher..This may contribute to new aspects for efficient and personalized small molecule treatment of lysosomal storage diseases. ..
- Jungwirth H, Wendler F, Platzer B, Bergler H, Högenauer G. Diazaborine resistance in yeast involves the efflux pumps Ycf1p and Flr1p and is enhanced by a gain-of-function allele of gene YAP1. Eur J Biochem. 2000;267:4809-16 pubmed
- Moisi M, Lichtenegger S, Tutz S, Seper A, Schild S, Reidl J. Characterizing the hexose-6-phosphate transport system of Vibrio cholerae, a utilization system for carbon and phosphate sources. J Bacteriol. 2013;195:1800-8 pubmed publisher..Thereby, a physiological role can be assigned to hexose-6P uptake, which correlates with increased fitness of V. cholerae after a transition from the host into phosphate-limiting environments...
- Guelly C, Zhu P, Leonardis L, Papić L, Zidar J, Schabhüttl M, et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet. 2011;88:99-105 pubmed publisher..196G>C [p.Glu66Gln] and c.976 delG [p.Val326TrpfsX8]). This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies HSN I and SPG3A as allelic disorders...
- Resch B, Gallistl S, Kutschera J, Mannhalter C, Muntean W, Mueller W. Thrombophilic polymorphisms--factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations--and preterm birth. Wien Klin Wochenschr. 2004;116:622-6 pubmed..Differences in the three thrombophilic polymorphisms in the two groups of infants were also not significant. We could not demonstrate a distinct association between these thrombophilic polymorphisms and preterm birth. ..
- Plecko B, Paul K, Paschke E, Stoeckler Ipsiroglu S, Struys E, Jakobs C, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007;28:19-26 pubmed..Administration of pyridoxine in PDE may not only correct secondary PLP deficiency, but may also lead to a reduction of AASA (and P6C) as presumably toxic compounds. ..
- Trenker M, Malli R, Fertschai I, Levak Frank S, Graier W. Uncoupling proteins 2 and 3 are fundamental for mitochondrial Ca2+ uniport. Nat Cell Biol. 2007;9:445-452 pubmed publisher..Moreover, the identification of proteins fundemental for mitochondrial Ca(2+) uptake expands our knowledge of the physiological role for mitochondrial Ca(2+) sequestration. ..
- Liegl B, Gully C, Reich O, Nogales F, Beham A, Regauer S. Expression of platelet-derived growth factor receptor in low-grade endometrial stromal sarcomas in the absence of activating mutations. Histopathology. 2007;50:448-52 pubmed..Patients with PDGFRalpha+ ESS may benefit from treatment with tyrosine kinase inhibitors by blocking autocrine and paracrine stimulation loops, blocking neovascularization and enhancing the effects of chemotherapy. ..
- Kashofer K, Regauer S. Analysis of full coding sequence of the TP53 gene in invasive vulvar cancers: Implications for therapy. Gynecol Oncol. 2017;146:314-318 pubmed publisher..Pharmacological therapies targeting mutant p53 will be promising strategies for personalized therapy in patients with TP53 mutated vulvar cancers. ..
- Riederer M, Lechleitner M, Hrzenjak A, Koefeler H, Desoye G, Heinemann A, et al. Endothelial lipase (EL) and EL-generated lysophosphatidylcholines promote IL-8 expression in endothelial cells. Atherosclerosis. 2011;214:338-44 pubmed publisher..Accordingly, due to its capacity to modulate the availability of the pro-inflammatory and pro-adhesive chemokine IL-8, EL should be considered an important player in the development of atherosclerosis. ..
- Horvath S, Wagner A, Steyrer E, Daum G. Metabolic link between phosphatidylethanolamine and triacylglycerol metabolism in the yeast Saccharomyces cerevisiae. Biochim Biophys Acta. 2011;1811:1030-7 pubmed publisher..Moreover, it is very likely that local availability of PE in microsomes is crucial for TAG synthesis through the Lro1p reaction. ..
- Acham Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache C, Sperl W, et al. A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. Mol Genet Metab. 2009;98:300-4 pubmed publisher..Genetic analysis revealed a novel mutation c.368T>C (p.Phe123Ser) in the RRM2B gene in the expressed maternal allele. The paternal allele was present in genomic DNA, but was not expressed as mature mRNA. ..
- Lang B, Gorren A, Oberdorfer G, Wenzl M, Furdui C, Poole L, et al. Vascular bioactivation of nitroglycerin by aldehyde dehydrogenase-2: reaction intermediates revealed by crystallography and mass spectrometry. J Biol Chem. 2012;287:38124-34 pubmed publisher..Our results shed light on the molecular mechanism of the GTN denitration reaction and provide useful information on the structural requirements for high affinity binding of organic nitrates to the catalytic site of ALDH2...
- Hofbauer H, Schopf F, Schleifer H, Knittelfelder O, Pieber B, Rechberger G, et al. Regulation of gene expression through a transcriptional repressor that senses acyl-chain length in membrane phospholipids. Dev Cell. 2014;29:729-39 pubmed publisher..These findings reveal an unexpected regulatory link between the major energy-sensing kinase, membrane lipid composition, and transcription. ..
- Goldinger S, Zimmer L, Schulz C, Ugurel S, Hoeller C, Kaehler K, et al. Upstream mitogen-activated protein kinase (MAPK) pathway inhibition: MEK inhibitor followed by a BRAF inhibitor in advanced melanoma patients. Eur J Cancer. 2014;50:406-10 pubmed publisher..This clinical investigation encourages further studies in prospective clinical trials to define the optimal treatment schedule for the MAPK pathway inhibition and should be accompanied by molecular monitoring using repeated biopsies. ..
- Heitzer E, Auer M, Gasch C, Pichler M, Ulz P, Hoffmann E, et al. Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res. 2013;73:2965-75 pubmed publisher..This study paves the way to use CTCs as a liquid biopsy in patients with cancer, providing more effective options to monitor tumor genomes that are prone to change during progression, treatment, and relapse. ..
- Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, et al. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017;101:391-403 pubmed publisher..Our results document the CDK10 loss-of-function phenotype and point to a function for CDK10 in transducing signals received at the primary cilia to sustain embryonic and postnatal development. ..
- Schnabl M, Oskolkova O, Holic R, Brezna B, Pichler H, Zágorsek M, et al. Subcellular localization of yeast Sec14 homologues and their involvement in regulation of phospholipid turnover. Eur J Biochem. 2003;270:3133-45 pubmed..In summary, Sfh2p and Sfh4p are the Sec14p homologues with the most pronounced functional similarity to Sec14p, whereas the other Sfh proteins appear to be functionally less related to Sec14p. ..
- Ivancic M, Valinger G, Gruber K, Schwab H. Inverting enantioselectivity of Burkholderia gladioli esterase EstB by directed and designed evolution. J Biotechnol. 2007;129:109-22 pubmed..9 for the best variant which carried four amino acid substitutions. Our results prove designed evolution followed by high-throughput screening to be an efficient strategy for engineering enzyme enantioselectivity...
- Athenstaedt K, Daum G. Biosynthesis of phosphatidic acid in lipid particles and endoplasmic reticulum of Saccharomyces cerevisiae. J Bacteriol. 1997;179:7611-6 pubmed..Thus, yeast contains at least two independent systems of phosphatidic acid biosynthesis. ..
- Auer Grumbach M, Bode H, Pieber T, Schabhüttl M, Fischer D, Seidl R, et al. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur J Med Genet. 2013;56:266-9 pubmed publisher..In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome...
- Trauner M, Fickert P, Halilbasic E, Moustafa T. Lessons from the toxic bile concept for the pathogenesis and treatment of cholestatic liver diseases. Wien Med Wochenschr. 2008;158:542-8 pubmed publisher..Finally, drugs for the treatment of cholangiopathies may target bile toxicity via nuclear receptors (FXR, PPARalpha) regulating biliary phospholipid and bile acid excretion...
- Papić L, Fischer D, Trajanoski S, Hoftberger R, Fischer C, Strobel T, et al. SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. Eur J Med Genet. 2011;54:214-9 pubmed publisher..Furthermore, this is the first study describing that in addition to PTRF, encoding polymerase I and transcript release factor, FKRP mutations may cause secondary caveolin-3 deficiency. ..
- Fantur K, Hofer D, Schitter G, Steiner A, Pabst B, Wrodnigg T, et al. DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. Mol Genet Metab. 2010;100:262-8 pubmed publisher..R201C and p.R201H, two further alleles, p.C230R and p.G438E, displayed significant sensitivity against DLHex-DGJ, with an increase of catalytic activity, and a normalization of transport and lysosomal processing of beta-Gal precursors. ..
- Schoiswohl G, Schweiger M, Schreiber R, Gorkiewicz G, Preiss Landl K, Taschler U, et al. Adipose triglyceride lipase plays a key role in the supply of the working muscle with fatty acids. J Lipid Res. 2010;51:490-9 pubmed publisher..Thus, ATGL activity is required for proper energy supply of the skeletal muscle during exercise. ..
- Wolinski H, Natter K, Kohlwein S. The fidgety yeast: focus on high-resolution live yeast cell microscopy. Methods Mol Biol. 2009;548:75-99 pubmed publisher..If an image tells more than a thousand (perhaps misleading?) words, the ease of obtaining "images" thus rather suggests analyzing many thousands of images, to come up with one relevant and biologically significant conclusion...
- Schweiger M, Lass A, Zimmermann R, Eichmann T, Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab. 2009;297:E289-96 pubmed publisher..These observations indicate an ATGL-independent function of CGI-58. This review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism. ..
- Reiner S, Micolod D, Zellnig G, Schneiter R. A genomewide screen reveals a role of mitochondria in anaerobic uptake of sterols in yeast. Mol Biol Cell. 2006;17:90-103 pubmed
- Heitzer E, Lassacher A, Quehenberger F, Kerl H, Wolf P. UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype. J Invest Dermatol. 2007;127:2872-81 pubmed
- Lassacher A, Heitzer E, Kerl H, Wolf P. p14ARF hypermethylation is common but INK4a-ARF locus or p53 mutations are rare in Merkel cell carcinoma. J Invest Dermatol. 2008;128:1788-96 pubmed publisher..Together, these findings suggest that p14ARF silencing may be an important mechanism in MCC tumorigenesis, and thus a potential target for therapeutic intervention in this highly aggressive tumor type...
- Perakis S, Auer M, Belic J, Heitzer E. Advances in Circulating Tumor DNA Analysis. Adv Clin Chem. 2017;80:73-153 pubmed publisher..In this chapter, recent advances of the analysis of ctDNA are summarized starting from the discovery of cell-free DNA, to methodological approaches and the clinical applicability. ..
- Borlee G, Plumley B, Martin K, Somprasong N, Mangalea M, Islam M, et al. Genome-scale analysis of the genes that contribute to Burkholderia pseudomallei biofilm formation identifies a crucial exopolysaccharide biosynthesis gene cluster. PLoS Negl Trop Dis. 2017;11:e0005689 pubmed publisher..These findings will facilitate further advances in understanding the pathogenesis of B. pseudomallei and improve diagnostics and therapeutic treatment strategies. ..