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Items: 1 to 20 of 29

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
3.
BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)
Kou Motani, Hidetaka Kosako
J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323
PMCID:
PMC7415991
AbstractArticlePDF–2.0M
4.
Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol
Hisako Akiyama, Mitsuko Ide, Yasuko Nagatsuka, Tomoko Sayano, Etsuro Nakanishi, Norihito Uemura, Kohei Yuyama, Yoshiki Yamaguchi, Hiroyuki Kamiguchi, Ryosuke Takahashi, Johannes M. F. G. Aerts, Peter Greimel, Yoshio Hirabayashi
J Biol Chem. 2020 Apr 17; 295(16): 5257–5277. Published online 2020 Mar 6. doi: 10.1074/jbc.RA119.012502
PMCID:
PMC7170530
AbstractArticlePDF–3.4M
5.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
6.
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations
Marina A. Woeste, Sina Stern, Diana N. Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N. Hansen, Sophie Schonauer, Carina E. Marx, Hussein Hamzeh, Heinz G. Körschen, Johannes M. F. G. Aerts, Wolfgang Bönigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K. Berger, Frank Bradke, Dagmar Wachten
J Biol Chem. 2019 Mar 15; 294(11): 3853–3871. Published online 2019 Jan 20. doi: 10.1074/jbc.RA118.006311
PMCID:
PMC6422076
AbstractArticlePDF–4.1M
7.
Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals
Johanna von Gerichten, Kerstin Schlosser, Dominic Lamprecht, Ivan Morace, Matthias Eckhardt, Dagmar Wachten, Richard Jennemann, Hermann-Josef Gröne, Matthias Mack, Roger Sandhoff
J Lipid Res. 2017 Jun; 58(6): 1247–1258. Published online 2017 Apr 3. doi: 10.1194/jlr.D076190
PMCID:
PMC5454501
AbstractArticlePDF–1.4M
8.
Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease
Sophie Schonauer, Heinz G. Körschen, Anke Penno, Andreas Rennhack, Bernadette Breiden, Konrad Sandhoff, Katharina Gutbrod, Peter Dörmann, Diana N. Raju, Per Haberkant, Mathias J. Gerl, Britta Brügger, Hila Zigdon, Ayelet Vardi, Anthony H. Futerman, Christoph Thiele, Dagmar Wachten
J Biol Chem. 2017 Apr 14; 292(15): 6177–6189. Published online 2017 Mar 3. doi: 10.1074/jbc.M116.762831
PMCID:
PMC5391749
AbstractArticlePDF–1.8M
9.
Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases
André R. A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, Cindy P. A. A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts
J Lipid Res. 2016 Mar; 57(3): 451–463. doi: 10.1194/jlr.M064923
PMCID:
PMC4766994
AbstractArticlePDF–1.2M
10.
Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice
André R. A. Marques, Jan Aten, Roelof Ottenhoff, Cindy P. A. A. van Roomen, Daniela Herrera Moro, Nike Claessen, María Fernanda Vinueza Veloz, Kuikui Zhou, Zhanmin Lin, Mina Mirzaian, Rolf G. Boot, Chris I. De Zeeuw, Herman S. Overkleeft, Yildiz Yildiz, Johannes M. F. G. Aerts
PLoS One. 2015; 10(8): e0135889. Published online 2015 Aug 14. doi: 10.1371/journal.pone.0135889
PMCID:
PMC4537125
AbstractArticlePDF–6.4M
11.
Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics
Diana Raju, Sophie Schonauer, Hussein Hamzeh, Kevin C. Flynn, Frank Bradke, Katharina vom Dorp, Peter Dörmann, Yildiz Yildiz, Christian Trötschel, Ansgar Poetsch, Bernadette Breiden, Konrad Sandhoff, Heinz G. Körschen, Dagmar Wachten
PLoS Genet. 2015 Mar; 11(3): e1005063. Published online 2015 Mar 24. doi: 10.1371/journal.pgen.1005063
PMCID:
PMC4372435
AbstractArticlePDF–4.3M
12.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Pramod K. Mistry, Jun Liu, Li Sun, Wei-Lien Chuang, Tony Yuen, Ruhua Yang, Ping Lu, Kate Zhang, Jianhua Li, Joan Keutzer, Agnes Stachnik, Albert Mennone, James L. Boyer, Dhanpat Jain, Roscoe O. Brady, Maria I. New, Mone Zaidi
Proc Natl Acad Sci U S A. 2014 Apr 1; 111(13): 4934–4939. Published online 2014 Mar 17. doi: 10.1073/pnas.1400768111
PMCID:
PMC3977292
AbstractArticlePDF–1.6M
13.
β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology
Christina M. Ridley, Karen E. Thur, Jessica Shanahan, Nagendra Babu Thillaiappan, Ann Shen, Karly Uhl, Charlotte M. Walden, Ahad A. Rahim, Simon N. Waddington, Frances M. Platt, Aarnoud C. van der Spoel
J Biol Chem. 2013 Sep 6; 288(36): 26052–26066. Published online 2013 Jul 23. doi: 10.1074/jbc.M113.463562
PMCID:
PMC3764809
AbstractArticlePDF–3.0M
14.
Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice
Tatyana A. Shelkovnikova, Owen M. Peters, Alexey V. Deykin, Natalie Connor-Robson, Hannah Robinson, Alexey A. Ustyugov, Sergey O. Bachurin, Tatyana G. Ermolkevich, Igor L. Goldman, Elena R. Sadchikova, Elena A. Kovrazhkina, Veronica I. Skvortsova, Shuo-Chien Ling, Sandrine Da Cruz, Philippe A. Parone, Vladimir L. Buchman, Natalia N. Ninkina
J Biol Chem. 2013 Aug 30; 288(35): 25266–25274. Published online 2013 Jul 18. doi: 10.1074/jbc.M113.492017
PMCID:
PMC3757190
AbstractArticlePDF–3.1M
15.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
16.
The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi
Heinz G. Körschen, Yildiz Yildiz, Diana Nancy Raju, Sophie Schonauer, Wolfgang Bönigk, Vera Jansen, Elisabeth Kremmer, U. Benjamin Kaupp, Dagmar Wachten
J Biol Chem. 2013 Feb 1; 288(5): 3381–3393. Published online 2012 Dec 17. doi: 10.1074/jbc.M112.414714
PMCID:
PMC3561557
AbstractArticlePDF–3.4M
17.
Transcription factor Ctip2 controls epidermal lipid metabolism and regulates expression of genes involved in sphingolipid biosynthesis during skin development
Zhixing Wang, Jay S. Kirkwood, Alan W. Taylor, Jan F. Stevens, Mark Leid, Gitali Ganguli-Indra, Arup K. Indra
J Invest Dermatol. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: J Invest Dermatol. 2013 Mar; 133(3): 668–676. Published online 2012 Oct 25. doi: 10.1038/jid.2012.358
PMCID:
PMC3556343
AbstractArticlePDF–608K
18.
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans
Klaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, Ursula Felderhoff-Mueser, Claudia Igney, Ellen Sidransky, Yildiz Yildiz
Biochem Biophys Res Commun. Author manuscript; available in PMC 2013 Jun 29.
Published in final edited form as: Biochem Biophys Res Commun. 2012 Jun 29; 423(2): 308–312. Published online 2012 May 30. doi: 10.1016/j.bbrc.2012.05.117
PMCID:
PMC3529407
AbstractArticlePDF–1.3M
19.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
20.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M

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