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Items: 1 to 20 of 26

1.
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger
Cells. 2021 Oct; 10(10): 2630. Published online 2021 Oct 1. doi: 10.3390/cells10102630
PMCID:
PMC8533863
AbstractArticlePDF–742K
2.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome.
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoit Arveiler
Genet Med. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Genet Med. 2020 Oct; 22(10): 1613–1622. Published online 2020 Jun 22. doi: 10.1038/s41436-020-0867-5
PMCID:
PMC7529931
AbstractArticlePDF–1.5M
3.
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
4.
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
5.
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
6.
Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein
Ramin Nazarian, Marta Starcevic, Melissa J. Spencer, Esteban C. Dell'Angelica
Biochem J. 2006 May 1; 395(Pt 3): 587–598. Prepublished online 2006 Feb 1. Published online 2006 Apr 11. doi: 10.1042/BJ20051965
PMCID:
PMC1462696
AbstractArticlePDF–1.0M
7.
Assembly and Architecture of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1)
Hyung Ho Lee, Daniel Nemecek, Christina Schindler, William J. Smith, Rodolfo Ghirlando, Alasdair C. Steven, Juan S. Bonifacino, James H. Hurley
J Biol Chem. 2012 Feb 17; 287(8): 5882–5890. Published online 2011 Dec 27. doi: 10.1074/jbc.M111.325746
PMCID:
PMC3285357
AbstractArticlePDF–1.4M
8.
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
9.
An integrative method for scoring candidate genes from association studies: application to warfarin dosing
Nicholas P Tatonetti, Joel T Dudley, Hersh Sagreiya, Atul J Butte, Russ B Altman
BMC Bioinformatics. 2010; 11(Suppl 9): S9. Published online 2010 Oct 28. doi: 10.1186/1471-2105-11-S9-S9
PMCID:
PMC2967750
AbstractArticlePDF–368K
10.
PTP4A2 promotes lysophagy by dephosphorylation of VCP/p97 at Tyr805
Yunpeng Bai, Guimei Yu, Hong-Ming Zhou, Ovini Amarasinghe, Yuan Zhou, Peipei Zhu, Qinglin Li, Lujuan Zhang, Frederick Nguele Meke, Yiming Miao, Eli Chapman, W. Andy Tao, Zhong-Yin Zhang
Autophagy. 2023; 19(5): 1562–1581. Published online 2022 Nov 7. doi: 10.1080/15548627.2022.2140558
PMCID:
PMC10240998
AbstractArticlePDF–4.4M
11.
Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins
James E. Tomkins, Sybille Dihanich, Alexandra Beilina, Raffaele Ferrari, Nicolò Ilacqua, Mark R. Cookson, Patrick A. Lewis, Claudia Manzoni
Proteomics. 2018 May; 18(10): 1700444. Published online 2018 Apr 17. doi: 10.1002/pmic.201700444
PMCID:
PMC5992104
AbstractArticlePDF–1.2M
12.
Quantitative Lys-ϵ-Gly-Gly (diGly) Proteomics Coupled with Inducible RNAi Reveals Ubiquitin-mediated Proteolysis of DNA Damage-inducible Transcript 4 (DDIT4) by the E3 Ligase HUWE1
Joel W. Thompson, Jane Nagel, Sjouke Hoving, Bertran Gerrits, Andreas Bauer, Jason R. Thomas, Marc W. Kirschner, Markus Schirle, Sarah J. Luchansky
J Biol Chem. 2014 Oct 17; 289(42): 28942–28955. Published online 2014 Aug 21. doi: 10.1074/jbc.M114.573352
PMCID:
PMC4200252
AbstractArticlePDF–1.6M
13.
Network organization of the human autophagy system
Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 68–76. Published online 2010 Jun 20. doi: 10.1038/nature09204
PMCID:
PMC2901998
AbstractArticlePDF–1.4M
14.
Defining the Human Deubiquitinating Enzyme Interaction Landscape
Mathew E. Sowa, Eric J. Bennett, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2010 Jul 23.
Published in final edited form as: Cell. 2009 Jul 23; 138(2): 389–403. Published online 2009 Jul 16. doi: 10.1016/j.cell.2009.04.042
PMCID:
PMC2716422
AbstractArticlePDF–6.1M
15.
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics
Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2011 Dec 10.
Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017
PMCID:
PMC3008586
AbstractArticlePDF–3.0M
16.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
17.
A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning
Koray Kırlı, Samir Karaca, Heinz Jürgen Dehne, Matthias Samwer, Kuan Ting Pan, Christof Lenz, Henning Urlaub, Dirk Görlich
eLife. 2015; 4: e11466. Published online 2015 Dec 17. doi: 10.7554/eLife.11466
PMCID:
PMC4764573
AbstractArticlePDF–5.7M
18.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
19.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
20.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M

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