PMC Links for Gene (Select 388552) - PMC

Select item 35019491.

A BLOC-1 Mutation Screen Reveals a Novel BLOC1S3 Mutation in Hermansky-Pudlak Syndrome Type 8 (HPS-8)

Andrew R Cullinane, James A Curry, Gretchen Golas, James Pan, Carmelo Carmona-Rivera, Richard A Hess, James G White, Marjan Huizing, William A Gahl

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2012 Sep; 25(5): 584–591. Published online 2012 Aug 2. doi: 10.1111/j.1755-148X.2012.01029.x

PMCID:: PMC3501949

Abstract Article PDF–1.2M

Select item 13802152.

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A. J. Eady, Ban Dawood, Carole McKeown, Richard C. Trembath, Jonathan Wilde, Steve P. Watson, Eamonn R. Maher

Am J Hum Genet. 2006 Jan; 78(1): 160–166. Published online 2005 Nov 28. doi: 10.1086/499338

PMCID:: PMC1380215

Abstract Article PDF–989K

Select item 29895313.

Genome-wide Analysis of Genetic Loci Associated with Alzheimer’s Disease

Sudha Seshadri, Annette L. Fitzpatrick, M Arfan Ikram, Anita L. DeStefano, Vilmundur Gudnason, Merce Boada, Joshua C. Bis, Albert V. Smith, Minerva M. Carassquillo, Jean Charles Lambert, Denise Harold, Elisabeth M. C. Schrijvers, Reposo Ramirez-Lorca, Stephanie Debette, W.T. Longstreth, Jr., A. Cecile J.W. Janssens, V. Shane Pankratz, Jean François Dartigues, Paul Hollingworth, Thor Aspelund, Isabel Hernandez, Alexa Beiser, Lewis H. Kuller, Peter J. Koudstaal, Dennis W. Dickson, Christophe Tzourio, Richard Abraham, Carmen Antunez, Yangchun Du, Jerome I. Rotter, Yurii S. Aulchenko, Tamara B. Harris, Ronald C. Petersen, Claudine Berr, Michael J. Owen, Jesus Lopez-Arrieta, Badri N. Varadarajan, James T. Becker, Fernando Rivadeneira, Michael A. Nalls, Neill R. Graff-Radford, Dominique Campion, Sanford Auerbach, Kenneth Rice, Albert Hofman, Palmi V. Jonsson, Helena Schmidt, Mark Lathrop, Thomas H. Mosley, Rhoda Au, Bruce M. Psaty, Andre G. Uitterlinden, Lindsay A. Farrer, Thomas Lumley, Agustin Ruiz, Julie Williams, Philippe Amouyel, Steve G. Younkin, Philip A. Wolf, Lenore J. Launer, Oscar L. Lopez, Cornelia M. van Duijn, Monique M. B. Breteler

JAMA. Author manuscript; available in PMC 2011 May 12.

Published in final edited form as: JAMA. 2010 May 12; 303(18): 1832–1840. doi: 10.1001/jama.2010.574

PMCID:: PMC2989531

Abstract Article PDF–388K

Select item 28607334.

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

Abstract Article PDF–648K

Select item 18050885.

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

Abstract Article PDF–4.3M

Select item 32853576.

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

Abstract Article PDF–1.4M

Select item 26287357.

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

Jennifer K. Lowe, Julian B. Maller, Itsik Pe'er, Benjamin M. Neale, Jacqueline Salit, Eimear E. Kenny, Jessica L. Shea, Ralph Burkhardt, J. Gustav Smith, Weizhen Ji, Martha Noel, Jia Nee Foo, Maude L. Blundell, Vita Skilling, Laura Garcia, Marcia L. Sullivan, Heather E. Lee, Anna Labek, Hope Ferdowsian, Steven B. Auerbach, Richard P. Lifton, Christopher Newton-Cheh, Jan L. Breslow, Markus Stoffel, Mark J. Daly, David M. Altshuler, Jeffrey M. Friedman

PLoS Genet. 2009 Feb; 5(2): e1000365. Published online 2009 Feb 6. doi: 10.1371/journal.pgen.1000365

PMCID:: PMC2628735

Abstract Article PDF–377K

Select item 47816438.

Secretory protein trafficking and organelle dynamics in living cells.

J Lippincott-Schwartz, T H Roberts, K Hirschberg

Annu Rev Cell Dev Biol. 2000; 16: 557–589. doi: 10.1146/annurev.cellbio.16.1.557

PMCID:: PMC4781643

Abstract Article

Select item 73083139.

Interactome analysis reveals that lncRNA HULC promotes aerobic glycolysis through LDHA and PKM2

Chunqing Wang, Yongmei Li, Shuai Yan, Hao Wang, Xianfeng Shao, Mingming Xiao, Baicai Yang, Guoxuan Qin, Ruirui Kong, Ruibing Chen, Ning Zhang

Nat Commun. 2020; 11: 3162. Published online 2020 Jun 22. doi: 10.1038/s41467-020-16966-3

PMCID:: PMC7308313

Abstract Article PDF–2.9M

Select item 849099710.

BioID reveals an ATG9A interaction with ATG13‐ATG101 in the degradation of p62/SQSTM1‐ubiquitin clusters

Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen

EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136

PMCID:: PMC8490997

Abstract Article PDF–4.5M

Select item 1014884311.

mTORC2 interactome and localization determine aggressiveness of high-grade glioma cells through association with gelsolin

Naphat Chantaravisoot, Piriya Wongkongkathep, Nuttiya Kalpongnukul, Narawit Pacharakullanon, Pornchai Kaewsapsak, Chaiyaboot Ariyachet, Joseph A. Loo, Fuyuhiko Tamanoi, Trairak Pisitkun

Sci Rep. 2023; 13: 7037. Published online 2023 Apr 29. doi: 10.1038/s41598-023-33872-y

PMCID:: PMC10148843

Abstract Article PDF–11M

Select item 486917012.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 567858113.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 476457314.

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

Abstract Article PDF–5.7M

Select item 461721115.

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

Abstract Article PDF–2.2M

Select item 553161116.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503017.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 13924118.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805919.

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

Abstract Article PDF–1.0M

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