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Items: 1 to 20 of 33

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.
Dysregulation of mannose-6-phosphate–dependent cholesterol homeostasis in acinar cells mediates pancreatitis
Olga A. Mareninova, Eszter T. Vegh, Natalia Shalbueva, Carli J.M. Wightman, Dustin L. Dillon, Sudarshan Malla, Yan Xie, Toshimasa Takahashi, Zoltan Rakonczay, Jr., Samuel W. French, Herbert Y. Gaisano, Fred S. Gorelick, Stephen J. Pandol, Steven J. Bensinger, Nicholas O. Davidson, David W. Dawson, Ilya Gukovsky, Anna S. Gukovskaya
J Clin Invest. 2021 Aug 2; 131(15): e146870. Published online 2021 Aug 2. doi: 10.1172/JCI146870
PMCID:
PMC8321573
AbstractArticlePDF–30M
3.
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
4.
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice
Lena Marie Westermann, Anke Baranowsky, Giorgia Di Lorenzo, Tatyana Danyukova, Jamie Soul, Jean-Marc Schwartz, Gretl Hendrickx, Michael Amling, Stefan Rose-John, Christoph Garbers, Thorsten Schinke, Sandra Pohl
Sci Rep. 2021; 11: 3556. Published online 2021 Feb 11. doi: 10.1038/s41598-021-82802-3
PMCID:
PMC7878873
AbstractArticlePDF–4.1M
5.
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Dis Model Mech. 2020 Nov 1; 13(11): dmm046425. Published online 2020 Nov 18. doi: 10.1242/dmm.046425
PMCID:
PMC7687858
AbstractArticle
6.
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
7.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
8.
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum
Tae-Un Han, Jessica Root, Laura D. Reyes, Elizabeth B. Huchinson, Johann du Hoffmann, Wang-Sik Lee, Terra D. Barnes, Dennis Drayna
Proc Natl Acad Sci U S A. 2019 Aug 27; 116(35): 17515–17524. Published online 2019 Aug 12. doi: 10.1073/pnas.1901480116
PMCID:
PMC6717282
AbstractArticlePDF–2.0M
9.
Regenerative proliferation of differentiated cells by mTORC1‐dependent paligenosis
Spencer G Willet, Mark A Lewis, Zhi‐Feng Miao, Dengqun Liu, Megan D Radyk, Rebecca L Cunningham, Joseph Burclaff, Greg Sibbel, Hei‐Yong G Lo, Valerie Blanc, Nicholas O Davidson, Zhen‐Ning Wang, Jason C Mills
EMBO J. 2018 Apr 3; 37(7): e98311. Published online 2018 Feb 21. doi: 10.15252/embj.201798311
PMCID:
PMC5881627
AbstractArticlePDF–3.2M
10.
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls
Terra D. Barnes, Timothy E. Holy
Front Behav Neurosci. 2016; 10: 237. Published online 2017 Jan 4. doi: 10.3389/fnbeh.2016.00237
PMCID:
PMC5209381
AbstractArticlePDF–1.8M
11.
A mutation associated with stuttering alters mouse pup ultrasonic vocalizations
Terra D. Barnes, David Wozniak, Joanne Gutierrez, Tae-Un Han, Dennis Drayna, Timothy E. Holy
Curr Biol. Author manuscript; available in PMC 2017 Oct 13.
Published before final editing as: Curr Biol. 2016 Apr 13 : S0960-9822(16)30179-8 10.1016/j.cub.2016.02.068. Published online 2016 Apr 13. doi: 10.1016/j.cub.2016.02.068
PMCID:
PMC5063665
AbstractArticlePDF–1.1M
12.
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes
Robert Brommage, Jeff Liu, Gwenn M Hansen, Laura L Kirkpatrick, David G Potter, Arthur T Sands, Brian Zambrowicz, David R Powell, Peter Vogel
Bone Res. 2014; 2: 14034. Published online 2014 Oct 28. doi: 10.1038/boneres.2014.34
PMCID:
PMC4472125
AbstractArticlePDF–1.6M
13.
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Takanobu Otomo, Michaela Schweizer, Katrin Kollmann, Valéa Schumacher, Nicole Muschol, Eva Tolosa, Hans-Willi Mittrücker, Thomas Braulke
J Cell Biol. 2015 Jan 19; 208(2): 171–180. doi: 10.1083/jcb.201407077
PMCID:
PMC4298682
AbstractArticlePDF–2.2M
14.
Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
Rachel A. Idol, David F. Wozniak, Hideji Fujiwara, Carla M. Yuede, Daniel S. Ory, Stuart Kornfeld, Peter Vogel
PLoS One. 2014; 9(10): e109768. Published online 2014 Oct 14. doi: 10.1371/journal.pone.0109768
Correction in:
PLoS One. 2014; 9(11): e114199.
PMCID:
PMC4196941
AbstractArticlePDF–17M
15.
A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology
Leigh Paton, Emmanuelle Bitoun, Janet Kenyon, David A. Priestman, Peter L. Oliver, Benjamin Edwards, Frances M. Platt, Kay E. Davies
J Biol Chem. 2014 Sep 26; 289(39): 26709–26721. Published online 2014 Aug 8. doi: 10.1074/jbc.M114.586156
PMCID:
PMC4175314
AbstractArticlePDF–3.5M
16.
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala-Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke
EMBO Mol Med. 2013 Dec; 5(12): 1871–1886. Published online 2013 Oct 15. doi: 10.1002/emmm.201302979
PMCID:
PMC3914524
AbstractArticlePDF–1.6M
17.
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module
Yi Qian, Heather Flanagan-Steet, Eline van Meel, Richard Steet, Stuart A. Kornfeld
Proc Natl Acad Sci U S A. 2013 Jun 18; 110(25): 10246–10251. Published online 2013 Jun 3. doi: 10.1073/pnas.1308453110
PMCID:
PMC3690890
AbstractArticlePDF–572K
18.
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
19.
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice
K. Kollmann, M. Damme, S. Markmann, W. Morelle, M. Schweizer, I. Hermans-Borgmeyer, A. K. Röchert, S. Pohl, T. Lübke, J.-C. Michalski, R. Käkelä, S. U. Walkley, T. Braulke
Brain. 2012 Sep; 135(9): 2661–2675. Published online 2012 Aug 29. doi: 10.1093/brain/aws209
PMCID:
PMC3437033
AbstractArticlePDF–1.7M
20.
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

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