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Items: 1 to 20 of 23

1.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
2.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
3.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
4.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Giorgia Di Lorenzo, Lena M. Westermann, Timur A. Yorgan, Julian Stürznickel, Nataniel F. Ludwig, Luise S. Ammer, Anke Baranowsky, Shiva Ahmadi, Elham Pourbarkhordariesfandabadi, Sandra R. Breyer, Tim N. Board, Anne Foster, Jean Mercer, Karen Tylee, Renata Voltolini Velho, Michaela Schweizer, Thomas Renné, Thomas Braulke, Dévora N. Randon, Fernanda Sperb-Ludwig, Louise Lapagesse de Camargo Pinto, Carolina Araujo Moreno, Denise P. Cavalcanti, Michael Amling, Kerstin Kutsche, Dominic Winter, Nicole M. Muschol, Ida V. D. Schwartz, Tim Rolvien, Tatyana Danyukova, Thorsten Schinke, Sandra Pohl
Genet Med. 2021; 23(12): 2369–2377. Published online 2021 Aug 2. doi: 10.1038/s41436-021-01285-9
PMCID:
PMC8629757
AbstractArticlePDF–1.8M
5.
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
AbstractArticlePDF–2.2M
6.
Disease-causing Missense Mutations within the N-terminal Transmembrane Domain of GlcNAc-1-phosphotransferase Impair Endoplasmic Reticulum Translocation or Golgi Retention
Wang-Sik Lee, Benjamin C. Jennings, Balraj Doray, Stuart Kornfeld
Hum Mutat. Author manuscript; available in PMC 2021 Jul 1.
Published in final edited form as: Hum Mutat. 2020 Jul; 41(7): 1321–1328. Published online 2020 Apr 8. doi: 10.1002/humu.24019
PMCID:
PMC7292759
AbstractArticlePDF–938K
7.
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
AbstractArticlePDF–2.7M
8.
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
M Hashim Raza, Carlos E F Domingues, Ronald Webster, Eduardo Sainz, Emily Paris, Rachel Rahn, Joanne Gutierrez, Ho Ming Chow, Jennifer Mundorff, Chang-soo Kang, Naveeda Riaz, Muhammad A R Basra, Shaheen Khan, Sheikh Riazuddin, Danilo Moretti-Ferreira, Allen Braun, Dennis Drayna
Eur J Hum Genet. 2016 Apr; 24(4): 529–534. Published online 2015 Jul 1. doi: 10.1038/ejhg.2015.154
PMCID:
PMC4929873
AbstractArticlePDF–253K
9.
Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase
Eline van Meel, Stuart Kornfeld
Hum Mutat. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 623–626. Published online 2016 Apr 22. doi: 10.1002/humu.22993
PMCID:
PMC4907843
AbstractArticlePDF–700K
10.
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
11.
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population
Huan Chen, Junquan Xu, Yuxi Zhou, Yong Gao, Guoqing Wang, Jiguang Xia, Michael SY Huen, Wai Ting Siok, Yuyang Jiang, Li Hai Tan, Yimin Sun
BMC Genet. 2015; 16: 7. Published online 2015 Feb 3. doi: 10.1186/s12863-015-0172-5
PMCID:
PMC4342093
AbstractArticlePDF–705K
12.
Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition
Yi Qian, Eline van Meel, Heather Flanagan-Steet, Alex Yox, Richard Steet, Stuart Kornfeld
J Biol Chem. 2015 Jan 30; 290(5): 3045–3056. Published online 2014 Dec 11. doi: 10.1074/jbc.M114.612507
PMCID:
PMC4317033
AbstractArticlePDF–2.4M
13.
A role for inherited metabolic deficits in persistent developmental stuttering
Changsoo Kang, Dennis Drayna
Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 276–280. Published online 2012 Jul 28. doi: 10.1016/j.ymgme.2012.07.020
PMCID:
PMC3483359
AbstractArticlePDF–471K
14.
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
15.
Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering
Changsoo Kang, Sheikh Riazuddin, Jennifer Mundorff, Donna Krasnewich, Penelope Friedman, James C. Mullikin, Dennis Drayna
N Engl J Med. Author manuscript; available in PMC 2010 Sep 9.
Published in final edited form as: N Engl J Med. 2010 Feb 25; 362(8): 677–685. Published online 2010 Feb 10. doi: 10.1056/NEJMoa0902630
PMCID:
PMC2936507
AbstractArticlePDF–1.7M
16.
Functions of the α, β, and γ Subunits of UDP-GlcNAc:Lysosomal Enzyme N-Acetylglucosamine-1-phosphotransferase
Yi Qian, Intaek Lee, Wang-Sik Lee, Meiqian Qian, Mariko Kudo, William M. Canfield, Peter Lobel, Stuart Kornfeld
J Biol Chem. 2010 Jan 29; 285(5): 3360–3370. Published online 2009 Dec 2. doi: 10.1074/jbc.M109.068650
PMCID:
PMC2823453
AbstractArticlePDF–1004K
17.
Proteomic Analysis of Human Parotid Gland Exosomes by Multidimensional Protein Identification Technology (MudPIT)
Mireya Gonzalez-Begne, Bingwen Lu, Xuemei Han, Fred K. Hagen, Arthur R. Hand, James E. Melvin, John R. Yates, III
J Proteome Res. Author manuscript; available in PMC 2010 Mar 6.
Published in final edited form as: J Proteome Res. 2009 Mar 6; 8(3): 1304–1314. doi: 10.1021/pr800658c
PMCID:
PMC2693447
AbstractArticlePDF–1.5M
18.
Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation.
Y Ben-Yoseph, M Potier, B A Pack, D A Mitchell, S B Melançon, H L Nadler
Biochem J. 1986 May 1; 235(3): 883–886. doi: 10.1042/bj2350883
PMCID:
PMC1146769
SummaryPage BrowsePDF–661K
19.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
20.
Large-scale cDNA transfection screening for genes related to cancer development and progression
Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu
Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101
Correction in:
Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.
PMCID:
PMC524842
AbstractArticlePDF–245K

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