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Items: 1 to 20 of 25

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.
Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus
Jennifer Larimore, Stephanie A. Zlatic, Miranda Arnold, Kaela S. Singleton, Rebecca Cross, Hannah Rudolph, Martha V. Bruegge, Andrea Sweetman, Cecilia Garza, Eli Whisnant, Victor Faundez
Front Genet. 2017; 8: 28. Published online 2017 Mar 10. doi: 10.3389/fgene.2017.00028
PMCID:
PMC5344932
AbstractArticlePDF–4.0M
3.
The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse
Avanti Gokhale, Cortnie Hartwig, Amanda H. Freeman, Ravi Das, Stephanie A. Zlatic, Rachel Vistein, Amelia Burch, Guillemette Carrot, Arielle F. Lewis, Sheldon Nelms, Dion K. Dickman, Manojkumar A. Puthenveedu, Daniel N. Cox, Victor Faundez
J Neurosci. 2016 Dec 7; 36(49): 12393–12411. doi: 10.1523/JNEUROSCI.1321-16.2016
PMCID:
PMC5148228
AbstractArticlePDF–5.7M
4.
Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor
Avanti Gokhale, Alysia Vrailas-Mortimer, Jennifer Larimore, Heather S. Comstra, Stephanie A. Zlatic, Erica Werner, Daniel F. Manvich, P. Michael Iuvone, David Weinshenker, Victor Faundez
Hum Mol Genet. 2015 Oct 1; 24(19): 5512–5523. Published online 2015 Jul 21. doi: 10.1093/hmg/ddv282
PMCID:
PMC4572075
AbstractArticlePDF–902K
5.
Dysbindin-1C Is Required for the Survival of Hilar Mossy Cells and the Maturation of Adult Newborn Neurons in Dentate Gyrus
Hao Wang, Yefeng Yuan, Zhao Zhang, Hui Yan, Yaqin Feng, Wei Li
J Biol Chem. 2014 Oct 17; 289(42): 29060–29072. Published online 2014 Aug 25. doi: 10.1074/jbc.M114.590927
PMCID:
PMC4200260
AbstractArticlePDF–2.9M
6.
Mutations in the BLOC-1 Subunits Dysbindin and Muted Generate Divergent and Dosage-dependent Phenotypes
Jennifer Larimore, Stephanie A. Zlatic, Avanti Gokhale, Karine Tornieri, Kaela S. Singleton, Ariana P. Mullin, Junxia Tang, Konrad Talbot, Victor Faundez
J Biol Chem. 2014 May 16; 289(20): 14291–14300. Published online 2014 Apr 8. doi: 10.1074/jbc.M114.553750
PMCID:
PMC4022895
AbstractArticlePDF–2.1M
7.
The BLOS1 interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles
Qing Yang, Xin He, Lin Yang, Zhiyong Zhou, Andrew R. Cullinane, Aihua Wei, Zhe Zhang, Zhenhua Hao, Aili Zhang, Min He, Yaqin Feng, Xiang Gao, William A. Gahl, Marjan Huizing, Wei Li
Traffic. Author manuscript; available in PMC 2013 Oct 19.
Published in final edited form as: Traffic. 2012 Aug; 13(8): 1160–1169. Published online 2012 May 28. doi: 10.1111/j.1600-0854.2012.01375.x
PMCID:
PMC3800082
AbstractArticlePDF–1.8M
8.
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
9.
Quantitative Proteomic and Genetic Analyses of the Schizophrenia Susceptibility Factor Dysbindin Identify Novel Roles of the Biogenesis of Lysosome-Related Organelles Complex 1
Avanti Gokhale, Jennifer Larimore, Erica Werner, Lomon So, Andres Moreno-De-Luca, Christa Lese-Martin, Vladimir V. Lupashin, Yoland Smith, Victor Faundez
J Neurosci. 2012 Mar 14; 32(11): 3697–3711. doi: 10.1523/JNEUROSCI.5640-11.2012
PMCID:
PMC3313842
AbstractArticlePDF–4.1M
10.
The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse
Jennifer Larimore, Karine Tornieri, Pearl V. Ryder, Avanti Gokhale, Stephanie A. Zlatic, Branch Craige, Joshua D. Lee, Konrad Talbot, Jean-Francois Pare, Yoland Smith, Victor Faundez
Mol Biol Cell. 2011 Dec 15; 22(24): 4854–4867. doi: 10.1091/mbc.E11-07-0592
PMCID:
PMC3237628
AbstractArticlePDF–7.5M
11.
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
12.
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
13.
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
Wei Li, Qing Zhang, Naoki Oiso, Edward K Novak, Rashi Gautam, Edward P O'Brien, Caroline L Tinsley, Derek J Blake, Richard A Spritz, Neal G Copeland, Nancy A Jenkins, Dominick Amato, Bruce A Roe, Marta Starcevic, Esteban C Dell'Angelica, Rosemary W Elliott, Vishnu Mishra, Stephen F Kingsmore, Richard E Paylor, Richard T Swank
Nat Genet. Author manuscript; available in PMC 2010 Apr 28.
Published in final edited form as: Nat Genet. 2003 Sep; 35(1): 84–89. Published online 2003 Aug 17. doi: 10.1038/ng1229
PMCID:
PMC2860733
AbstractArticlePDF–648K
14.
The gene for the muted (mu) mouse, a model for Hermansky–Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
Qing Zhang, Wei Li, Edward K. Novak, Amna Karim, Vishnu S. Mishra, Stephen F. Kingsmore, Bruce A. Roe, Tamio Suzuki, Richard T. Swank
Hum Mol Genet. Author manuscript; available in PMC 2010 Mar 30.
Published in final edited form as: Hum Mol Genet. 2002 Mar 15; 11(6): 697–706. doi: 10.1093/hmg/11.6.697
PMCID:
PMC2847475
AbstractArticlePDF–2.1M
15.
Hermansky-Pudlak Protein Complexes, AP-3 and BLOC-1, Differentially Regulate Presynaptic Composition in the Striatum and Hippocampus
Karen Newell-Litwa, Sreenivasulu Chintala, Susan Jenkins, Jean-Francois Pare, LeeAnne McGaha, Yoland Smith, Victor Faundez
J Neurosci. 2010 Jan 20; 30(3): 820–831. doi: 10.1523/JNEUROSCI.3400-09.2010
PMCID:
PMC2824551
AbstractArticlePDF–6.5M
16.
The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins, and role in neurite outgrowth
CA Ghiani, M Starcevic, IA Rodriguez-Fernandez, R Nazarian, VT Cheli, LN Chan, JS Malvar, J de Vellis, C Sabatti, EC Dell’Angelica
Mol Psychiatry. Author manuscript; available in PMC 2010 Aug 1.
Published in final edited form as: Mol Psychiatry. 2010 Feb; 15(2): 115–215. Published online 2009 Jun 23. doi: 10.1038/mp.2009.58
PMCID:
PMC2811213
AbstractArticlePDF–1.6M
17.
Roles of BLOC-1 and Adaptor Protein-3 Complexes in Cargo Sorting to Synaptic Vesicles
Karen Newell-Litwa, Gloria Salazar, Yoland Smith, Victor Faundez
Mol Biol Cell. 2009 Mar 1; 20(5): 1441–1453. doi: 10.1091/mbc.E08-05-0456
PMCID:
PMC2649275
AbstractArticlePDF–676K
18.
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells
Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin
Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108
PMCID:
PMC2556270
AbstractArticlePDF–493K
19.
BLOC-1 Is Required for Cargo-specific Sorting from Vacuolar Early Endosomes toward Lysosome-related Organelles
Subba Rao Gangi Setty, Danièle Tenza, Steven T. Truschel, Evelyn Chou, Elena V. Sviderskaya, Alexander C. Theos, M. Lynn Lamoreux, Santiago M. Di Pietro, Marta Starcevic, Dorothy C. Bennett, Esteban C. Dell'Angelica, Graça Raposo, Michael S. Marks
Mol Biol Cell. 2007 Mar; 18(3): 768–780. doi: 10.1091/mbc.E06-12-1066
Correction in:
Mol Biol Cell. 2017 Feb 1; 28(3): 500.
PMCID:
PMC1805088
AbstractArticlePDF–4.3M
20.
BLOC-1 Complex Deficiency Alters the Targeting of Adaptor Protein Complex-3 Cargoes
G. Salazar, B. Craige, M. L. Styers, K. A. Newell-Litwa, M. M. Doucette, B. H. Wainer, J. M. Falcon-Perez, E. C. Dell’Angelica, A. A. Peden, E. Werner, V. Faundez
Mol Biol Cell. 2006 Sep; 17(9): 4014–4026. doi: 10.1091/mbc.E06-02-0103
PMCID:
PMC1556383
AbstractArticlePDF–2.6M

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