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Items: 1 to 20 of 206

1.

A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.

Schalli M, Weber P, Tysoe C, Pabst BM, Thonhofer M, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2017 Aug 1;27(15):3431-3435. doi: 10.1016/j.bmcl.2017.05.086. Epub 2017 May 30.

PMID:
28600215
2.

Akute Pankreatitis nach nicht chirurgischer Parodontaltherapie in Kombination mit systemischer Antibiotikatherapie.

Hägi TT, Stirnimann G, Stutz A, Lang NP.

Swiss Dent J. 2017;127(4):315-323. German, French.

3.

NLRP3 inflammasome assembly is regulated by phosphorylation of the pyrin domain.

Stutz A, Kolbe CC, Stahl R, Horvath GL, Franklin BS, van Ray O, Brinkschulte R, Geyer M, Meissner F, Latz E.

J Exp Med. 2017 Jun 5;214(6):1725-1736. doi: 10.1084/jem.20160933. Epub 2017 May 2.

PMID:
28465465
4.

N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.

Schalli M, Tysoe C, Fischer R, Pabst BM, Thonhofer M, Paschke E, Rappitsch T, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 18;443-444:15-22. doi: 10.1016/j.carres.2017.03.009. Epub 2017 Mar 11.

PMID:
28319682
5.

A Morita-Baylis-Hillman based route to C-5a-chain-extended 4-epi-isofagomine type glycosidase inhibitors.

Lebl R, Thonhofer M, Tysoe C, Pabst BM, Schalli M, Weber P, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 10;442:31-40. doi: 10.1016/j.carres.2017.03.003. Epub 2017 Mar 6.

PMID:
28288345
6.

Human NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase.

Liu X, Pichulik T, Wolz OO, Dang TM, Stutz A, Dillen C, Delmiro Garcia M, Kraus H, Dickhöfer S, Daiber E, Münzenmayer L, Wahl S, Rieber N, Kümmerle-Deschner J, Yazdi A, Franz-Wachtel M, Macek B, Radsak M, Vogel S, Schulte B, Walz JS, Hartl D, Latz E, Stilgenbauer S, Grimbacher B, Miller L, Brunner C, Wolz C, Weber AN.

J Allergy Clin Immunol. 2017 Feb 16. pii: S0091-6749(17)30232-4. doi: 10.1016/j.jaci.2017.01.017. [Epub ahead of print]

PMID:
28216434
7.

C-5a-substituted validamine type glycosidase inhibitors.

Schalli M, Wolfsgruber A, Gonzalez Santana A, Tysoe C, Fischer R, Stütz AE, Thonhofer M, Withers SG.

Carbohydr Res. 2017 Feb 22;440-441:1-9. doi: 10.1016/j.carres.2017.01.006. Epub 2017 Jan 13.

PMID:
28135569
8.

Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking.

Weischenfeldt J, Dubash T, Drainas AP, Mardin BR, Chen Y, Stütz AM, Waszak SM, Bosco G, Halvorsen AR, Raeder B, Efthymiopoulos T, Erkek S, Siegl C, Brenner H, Brustugun OT, Dieter SM, Northcott PA, Petersen I, Pfister SM, Schneider M, Solberg SK, Thunissen E, Weichert W, Zichner T, Thomas R, Peifer M, Helland A, Ball CR, Jechlinger M, Sotillo R, Glimm H, Korbel JO.

Nat Genet. 2017 Jan;49(1):65-74. doi: 10.1038/ng.3722. Epub 2016 Nov 21.

PMID:
27869826
9.

Testing Hadronic Interactions at Ultrahigh Energies with Air Showers Measured by the Pierre Auger Observatory.

Aab A, Abreu P, Aglietta M, Ahn EJ, Al Samarai I, Albuquerque IF, Allekotte I, Allen JD, Allison P, Almela A, Alvarez Castillo J, Alvarez-Muñiz J, Ambrosio M, Anastasi GA, Anchordoqui L, Andrada B, Andringa S, Aramo C, Arqueros F, Arsene N, Asorey H, Assis P, Aublin J, Avila G, Badescu AM, Baus C, Beatty JJ, Becker KH, Bellido JA, Berat C, Bertaina ME, Bertou X, Biermann PL, Billoir P, Biteau J, Blaess SG, Blanco A, Blazek J, Bleve C, Blümer H, Boháčová M, Boncioli D, Bonifazi C, Borodai N, Botti AM, Brack J, Brancus I, Bretz T, Bridgeman A, Briechle FL, Buchholz P, Bueno A, Buitink S, Buscemi M, Caballero-Mora KS, Caccianiga B, Caccianiga L, Cancio A, Canfora F, Caramete L, Caruso R, Castellina A, Cataldi G, Cazon L, Cester R, Chavez AG, Chiavassa A, Chinellato JA, Chirinos Diaz JC, Chudoba J, Clay RW, Colalillo R, Coleman A, Collica L, Coluccia MR, Conceição R, Contreras F, Cooper MJ, Coutu S, Covault CE, Cronin J, Dallier R, D'Amico S, Daniel B, Dasso S, Daumiller K, Dawson BR, de Almeida RM, de Jong SJ, De Mauro G, de Mello Neto JR, De Mitri I, de Oliveira J, de Souza V, Debatin J, Del Peral L, Deligny O, Dhital N, Di Giulio C, Di Matteo A, Díaz Castro ML, Diogo F, Dobrigkeit C, D'Olivo JC, Dorofeev A, Dos Anjos RC, Dova MT, Dundovic A, Ebr J, Engel R, Erdmann M, Erfani M, Escobar CO, Espadanal J, Etchegoyen A, Falcke H, Fang K, Farrar GR, Fauth AC, Fazzini N, Ferguson AP, Fick B, Figueira JM, Filevich A, Filipčič A, Fratu O, Freire MM, Fujii T, Fuster A, Gallo F, García B, Garcia-Pinto D, Gate F, Gemmeke H, Gherghel-Lascu A, Ghia PL, Giaccari U, Giammarchi M, Giller M, Głas D, Glaser C, Glass H, Golup G, Gómez Berisso M, Gómez Vitale PF, González N, Gookin B, Gordon J, Gorgi A, Gorham P, Gouffon P, Griffith N, Grillo AF, Grubb TD, Guarino F, Guedes GP, Hampel MR, Hansen P, Harari D, Harrison TA, Harton JL, Hasankiadeh Q, Haungs A, Hebbeker T, Heck D, Heimann P, Herve AE, Hill GC, Hojvat C, Hollon N, Holt E, Homola P, Hörandel JR, Horvath P, Hrabovský M, Huege T, Hulsman J, Insolia A, Isar PG, Jandt I, Jansen S, Jarne C, Johnsen JA, Josebachuili M, Kääpä A, Kambeitz O, Kampert KH, Kasper P, Katkov I, Keilhauer B, Kemp E, Kieckhafer RM, Klages HO, Kleifges M, Kleinfeller J, Krause R, Krohm N, Kuempel D, Kukec Mezek G, Kunka N, Kuotb Awad A, LaHurd D, Latronico L, Lauscher M, Lautridou P, Lebrun P, Legumina R, Leigui de Oliveira MA, Letessier-Selvon A, Lhenry-Yvon I, Link K, Lopes L, López R, López Casado A, Lucero A, Malacari M, Mallamaci M, Mandat D, Mantsch P, Mariazzi AG, Marin V, Mariş IC, Marsella G, Martello D, Martinez H, Martínez Bravo O, Masías Meza JJ, Mathes HJ, Mathys S, Matthews J, Matthews JA, Matthiae G, Maurizio D, Mayotte E, Mazur PO, Medina C, Medina-Tanco G, Mello VB, Melo D, Menshikov A, Messina S, Micheletti MI, Middendorf L, Minaya IA, Miramonti L, Mitrica B, Molina-Bueno L, Mollerach S, Montanet F, Morello C, Mostafá M, Moura CA, Müller G, Muller MA, Müller S, Naranjo I, Navas S, Necesal P, Nellen L, Nelles A, Neuser J, Nguyen PH, Niculescu-Oglinzanu M, Niechciol M, Niemietz L, Niggemann T, Nitz D, Nosek D, Novotny V, Nožka H, Núñez LA, Ochilo L, Oikonomou F, Olinto A, Pakk Selmi-Dei D, Palatka M, Pallotta J, Papenbreer P, Parente G, Parra A, Paul T, Pech M, Pedreira F, Pękala J, Pelayo R, Peña-Rodriguez J, Pepe IM, Pereira LA, Perrone L, Petermann E, Peters C, Petrera S, Phuntsok J, Piegaia R, Pierog T, Pieroni P, Pimenta M, Pirronello V, Platino M, Plum M, Porowski C, Prado RR, Privitera P, Prouza M, Quel EJ, Querchfeld S, Quinn S, Rautenberg J, Ravel O, Ravignani D, Revenu B, Ridky J, Risse M, Ristori P, Rizi V, Rodrigues de Carvalho W, Rodriguez Rojo J, Rodríguez-Frías MD, Rogozin D, Rosado J, Roth M, Roulet E, Rovero AC, Saffi SJ, Saftoiu A, Salazar H, Saleh A, Salesa Greus F, Salina G, Sanabria Gomez JD, Sánchez F, Sanchez-Lucas P, Santos EM, Santos E, Sarazin F, Sarkar B, Sarmento R, Sarmiento-Cano C, Sato R, Scarso C, Schauer M, Scherini V, Schieler H, Schmidt D, Scholten O, Schoorlemmer H, Schovánek P, Schröder FG, Schulz A, Schulz J, Schumacher J, Sciutto SJ, Segreto A, Settimo M, Shadkam A, Shellard RC, Sigl G, Sima O, Śmiałkowski A, Šmída R, Snow GR, Sommers P, Sonntag S, Sorokin J, Squartini R, Stanca D, Stanič S, Stapleton J, Stasielak J, Strafella F, Stutz A, Suarez F, Suarez Durán M, Sudholz T, Suomijärvi T, Supanitsky AD, Sutherland MS, Swain J, Szadkowski Z, Taborda OA, Tapia A, Tepe A, Theodoro VM, Timmermans C, Todero Peixoto CJ, Tomankova L, Tomé B, Tonachini A, Torralba Elipe G, Torres Machado D, Travnicek P, Trini M, Ulrich R, Unger M, Urban M, Valbuena-Delgado A, Valdés Galicia JF, Valiño I, Valore L, van Aar G, van Bodegom P, van den Berg AM, van Vliet A, Varela E, Vargas Cárdenas B, Varner G, Vázquez JR, Vázquez RA, Veberič D, Verzi V, Vicha J, Videla M, Villaseñor L, Vorobiov S, Wahlberg H, Wainberg O, Walz D, Watson AA, Weber M, Weindl A, Wiencke L, Wilczyński H, Winchen T, Wittkowski D, Wundheiler B, Wykes S, Yang L, Yapici T, Yelos D, Zas E, Zavrtanik D, Zavrtanik M, Zepeda A, Zimmermann B, Ziolkowski M, Zong Z, Zuccarello F; Pierre Auger Collaboration.

Phys Rev Lett. 2016 Nov 4;117(19):192001. Epub 2016 Oct 31.

10.

From secondary alcohols to tertiary fluoro substituents: A simple route to hydroxymethyl branched sugars with a fluorine substituent at the branching point.

Schalli M, Thonhofer M, Wolfsgruber A, Weber H, Fischer R, Saf R, Stütz AE.

Carbohydr Res. 2016 Dec 21;436:11-19. doi: 10.1016/j.carres.2016.10.013. Epub 2016 Oct 29.

PMID:
27829178
11.

Carbohydrate-Processing Enzymes of the Lysosome: Diseases Caused by Misfolded Mutants and Sugar Mimetics as Correcting Pharmacological Chaperones.

Stütz AE, Wrodnigg TM.

Adv Carbohydr Chem Biochem. 2016;73:225-302. doi: 10.1016/bs.accb.2016.08.002. Epub 2016 Oct 17. Review.

PMID:
27816107
12.

Recurrent MET fusion genes represent a drug target in pediatric glioblastoma.

International Cancer Genome Consortium PedBrain Tumor Project.

Nat Med. 2016 Nov;22(11):1314-1320. doi: 10.1038/nm.4204. Epub 2016 Oct 17.

PMID:
27748748
13.

Immortalization capacity of HPV types is inversely related to chromosomal instability.

Schütze DM, Krijgsman O, Snijders PJ, Ylstra B, Weischenfeldt J, Mardin BR, Stütz AM, Korbel JO, de Winter JP, Meijer CJ, Quint WG, Bosch L, Wilting SM, Steenbergen RD.

Oncotarget. 2016 Jun 21;7(25):37608-37621. doi: 10.18632/oncotarget.8058.

14.

[Medical Problems in Air Travel from a General Practitioner’s Perspective].

Stutz A, Ensslin A.

Praxis (Bern 1994). 2016 Jul 6;105(14):821-7. doi: 10.1024/1661-8157/a002406. Review. German.

PMID:
27381306
15.

Measurement of the Radiation Energy in the Radio Signal of Extensive Air Showers as a Universal Estimator of Cosmic-Ray Energy.

Aab A, Abreu P, Aglietta M, Ahn EJ, Al Samarai I, Albuquerque IF, Allekotte I, Allison P, Almela A, Alvarez Castillo J, Alvarez-Muñiz J, Alves Batista R, Ambrosio M, Aminaei A, Anastasi GA, Anchordoqui L, Andringa S, Aramo C, Arqueros F, Arsene N, Asorey H, Assis P, Aublin J, Avila G, Awal N, Badescu AM, Baus C, Beatty JJ, Becker KH, Bellido JA, Berat C, Bertaina ME, Bertou X, Biermann PL, Billoir P, Blaess SG, Blanco A, Blanco M, Blazek J, Bleve C, Blümer H, Boháčová M, Boncioli D, Bonifazi C, Borodai N, Brack J, Brancus I, Bretz T, Bridgeman A, Brogueira P, Buchholz P, Bueno A, Buitink S, Buscemi M, Caballero-Mora KS, Caccianiga B, Caccianiga L, Candusso M, Caramete L, Caruso R, Castellina A, Cataldi G, Cazon L, Cester R, Chavez AG, Chiavassa A, Chinellato JA, Chudoba J, Cilmo M, Clay RW, Cocciolo G, Colalillo R, Coleman A, Collica L, Coluccia MR, Conceição R, Contreras F, Cooper MJ, Cordier A, Coutu S, Covault CE, Cronin J, Dallier R, Daniel B, Dasso S, Daumiller K, Dawson BR, de Almeida RM, de Jong SJ, De Mauro G, de Mello Neto JR, De Mitri I, de Oliveira J, de Souza V, Del Peral L, Deligny O, Dhital N, Di Giulio C, Di Matteo A, Diaz JC, Díaz Castro ML, Diogo F, Dobrigkeit C, Docters W, D'Olivo JC, Dorofeev A, Dorosti Hasankiadeh Q, Dos Anjos RC, Dova MT, Ebr J, Engel R, Erdmann M, Erfani M, Escobar CO, Espadanal J, Etchegoyen A, Falcke H, Fang K, Farrar G, Fauth AC, Fazzini N, Ferguson AP, Fick B, Figueira JM, Filevich A, Filipčič A, Fratu O, Freire MM, Fujii T, García B, Garcia-Gamez D, Garcia-Pinto D, Gate F, Gemmeke H, Gherghel-Lascu A, Ghia PL, Giaccari U, Giammarchi M, Giller M, Głas D, Glaser C, Glass H, Golup G, Gómez Berisso M, Gómez Vitale PF, González N, Gookin B, Gordon J, Gorgi A, Gorham P, Gouffon P, Griffith N, Grillo AF, Grubb TD, Guarino F, Guedes GP, Hampel MR, Hansen P, Harari D, Harrison TA, Hartmann S, Harton JL, Haungs A, Hebbeker T, Heck D, Heimann P, Herve AE, Hill GC, Hojvat C, Hollon N, Holt E, Homola P, Hörandel JR, Horvath P, Hrabovský M, Huber D, Huege T, Insolia A, Isar PG, Jandt I, Jansen S, Jarne C, Johnsen JA, Josebachuili M, Kääpä A, Kambeitz O, Kampert KH, Kasper P, Katkov I, Keilhauer B, Kemp E, Kieckhafer RM, Klages HO, Kleifges M, Kleinfeller J, Krause R, Krohm N, Kuempel D, Kukec Mezek G, Kunka N, Kuotb Awad AW, LaHurd D, Latronico L, Lauer R, Lauscher M, Lautridou P, Le Coz S, Lebrun D, Lebrun P, Leigui de Oliveira MA, Letessier-Selvon A, Lhenry-Yvon I, Link K, Lopes L, López R, López Casado A, Louedec K, Lucero A, Malacari M, Mallamaci M, Maller J, Mandat D, Mantsch P, Mariazzi AG, Marin V, Mariş IC, Marsella G, Martello D, Martinez H, Martínez Bravo O, Martraire D, Masías Meza JJ, Mathes HJ, Mathys S, Matthews J, Matthews JA, Matthiae G, Maurizio D, Mayotte E, Mazur PO, Medina C, Medina-Tanco G, Meissner R, Mello VB, Melo D, Menshikov A, Messina S, Micheletti MI, Middendorf L, Minaya IA, Miramonti L, Mitrica B, Molina-Bueno L, Mollerach S, Montanet F, Morello C, Mostafá M, Moura CA, Muller MA, Müller G, Müller S, Navas S, Necesal P, Nellen L, Nelles A, Neuser J, Nguyen PH, Niculescu-Oglinzanu M, Niechciol M, Niemietz L, Niggemann T, Nitz D, Nosek D, Novotny V, Nožka L, Núñez LA, Ochilo L, Oikonomou F, Olinto A, Pacheco N, Pakk Selmi-Dei D, Palatka M, Pallotta J, Papenbreer P, Parente G, Parra A, Paul T, Pech M, Pȩkala J, Pelayo R, Pepe IM, Perrone L, Petermann E, Peters C, Petrera S, Petrov Y, Phuntsok J, Piegaia R, Pierog T, Pieroni P, Pimenta M, Pirronello V, Platino M, Plum M, Porcelli A, Porowski C, Prado RR, Privitera P, Prouza M, Quel EJ, Querchfeld S, Quinn S, Rautenberg J, Ravel O, Ravignani D, Reinert D, Revenu B, Ridky J, Risse M, Ristori P, Rizi V, Rodrigues de Carvalho W, Rodriguez Rojo J, Rodríguez-Frías MD, Rogozin D, Rosado J, Roth M, Roulet E, Rovero AC, Saffi SJ, Saftoiu A, Salazar H, Saleh A, Salesa Greus F, Salina G, Sanabria Gomez JD, Sánchez F, Sanchez-Lucas P, Santos E, Santos EM, Sarazin F, Sarkar B, Sarmento R, Sarmiento-Cano C, Sato R, Scarso C, Schauer M, Scherini V, Schieler H, Schmidt D, Scholten O, Schoorlemmer H, Schovánek P, Schröder FG, Schulz A, Schulz J, Schumacher J, Sciutto SJ, Segreto A, Settimo M, Shadkam A, Shellard RC, Sigl G, Sima O, Śmiałkowski A, Šmída R, Snow GR, Sommers P, Sonntag S, Sorokin J, Squartini R, Srivastava YN, Stanca D, Stanič S, Stapleton J, Stasielak J, Stephan M, Stutz A, Suarez F, Suarez Durán M, Suomijärvi T, Supanitsky AD, Sutherland MS, Swain J, Szadkowski Z, Taborda OA, Tapia A, Tepe A, Theodoro VM, Timmermans C, Todero Peixoto CJ, Toma G, Tomankova L, Tomé B, Tonachini A, Torralba Elipe G, Torres Machado D, Travnicek P, Trini M, Ulrich R, Unger M, Urban M, Valdés Galicia JF, Valiño I, Valore L, van Aar G, van Bodegom P, van den Berg AM, van Velzen S, van Vliet A, Varela E, Vargas Cárdenas B, Varner G, Vasquez R, Vázquez JR, Vázquez RA, Veberič D, Verzi V, Vicha J, Videla M, Villaseñor L, Vlcek B, Vorobiov S, Wahlberg H, Wainberg O, Walz D, Watson AA, Weber M, Weidenhaupt K, Weindl A, Welling C, Werner F, Widom A, Wiencke L, Wilczyński H, Winchen T, Wittkowski D, Wundheiler B, Wykes S, Yang L, Yapici T, Yushkov A, Zas E, Zavrtanik D, Zavrtanik M, Zepeda A, Zimmermann B, Ziolkowski M, Zuccarello F; Pierre Auger Collaboration.

Phys Rev Lett. 2016 Jun 17;116(24):241101. doi: 10.1103/PhysRevLett.116.241101. Epub 2016 Jun 14.

16.

Next-generation sequencing-based detection of germline L1-mediated transductions.

Tica J, Lee E, Untergasser A, Meiers S, Garfield DA, Gokcumen O, Furlong EE, Park PJ, Stütz AM, Korbel JO.

BMC Genomics. 2016 May 10;17:342. doi: 10.1186/s12864-016-2670-x.

17.

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

Coccé MC, Mardin BR, Bens S, Stütz AM, Lubieniecki F, Vater I, Korbel JO, Siebert R, Alonso CN, Gallego MS.

Genes Chromosomes Cancer. 2016 Sep;55(9):677-87. doi: 10.1002/gcc.22369. Epub 2016 Jun 23.

PMID:
27121553
18.

Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.

Thonhofer M, Weber P, Gonzalez Santana A, Tysoe C, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2016 Jun 24;429:71-80. doi: 10.1016/j.carres.2016.03.020. Epub 2016 Mar 31.

PMID:
27063389
19.

Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.

Thonhofer M, Weber P, Santana AG, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2016 Mar 1;26(5):1438-42. doi: 10.1016/j.bmcl.2016.01.059. Epub 2016 Jan 22.

PMID:
26838810
20.

5-Fluoro derivatives of 4-epi-isofagomine as D-galactosidase inhibitors and potential pharmacological chaperones for GM1-gangliosidosis as well as Fabry's disease.

Thonhofer M, Gonzalez Santana A, Fischer R, Torvisco Gomez A, Saf R, Schalli M, Stütz AE, Withers SG.

Carbohydr Res. 2016 Feb;420:6-12. doi: 10.1016/j.carres.2015.10.009. Epub 2015 Dec 8.

PMID:
26717544

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