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Items: 1 to 20 of 58

1.
Novel VAC14 variants identified in two Chinese siblings with childhood‐onset striatonigral degeneration
Shuang Liao, Tingting Chen, Ying Dai, Yanqin Wang, Fangrui Wu, Min Zhong
Mol Genet Genomic Med. 2020 Feb; 8(2): e1101. Published online 2019 Dec 26. doi: 10.1002/mgg3.1101
PMCID:
PMC7005630
AbstractArticlePDF–1.0M
2.
Human genetic variation in VAC14 regulates Salmonella invasion and typhoid fever through modulation of cholesterol
Monica I. Alvarez, Luke C. Glover, Peter Luo, Liuyang Wang, Elizabeth Theusch, Stefan H. Oehlers, Eric M. Walton, Trinh Thi Bich Tram, Yu-Lin Kuang, Jerome I. Rotter, Colleen M. McClean, Nguyen Tran Chinh, Marisa W. Medina, David M. Tobin, Sarah J. Dunstan, Dennis C. Ko
Proc Natl Acad Sci U S A. 2017 Sep 12; 114(37): E7746–E7755. Published online 2017 Aug 21. doi: 10.1073/pnas.1706070114
Correction in:
Proc Natl Acad Sci U S A. 2017 Dec 12; 114(50): E10852.
Correction in:
Proc Natl Acad Sci U S A. 2017 Dec 12; 114(50): E10849–E10850.
PMCID:
PMC5604016
AbstractArticlePDF–1.6M
3.
Yunis-Varón syndrome caused by biallelic VAC14 mutations
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Care4Rare Consortium, Philippe M Campeau, Kym M Boycott, Jean Michaud, André BP van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Eur J Hum Genet. 2017 Sep; 25(9): 1049–1054. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.99
PMCID:
PMC5558182
AbstractArticlePDF–1.6M
4.
Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism That Increases Risk of Docetaxel-Induced Neuropathy
Daniel L. Hertz, Kouros Owzar, Sherrie Lessans, Claudia Wing, Chen Jiang, William Kevin Kelly, Jai Patel, Susan Halabi, Yoichi Furukawa, Heather E. Wheeler, Alexander B. Sibley, Cameron Lassiter, Lois Weisman, Dorothy Watson, Stefanie D. Krens, Flora Mulkey, Cynthia L. Renn, Eric J. Small, Phillip G. Febbo, Ivo Shterev, Deanna L. Kroetz, Paula N. Friedman, John F. Mahoney, Michael A. Carducci, Michael J Kelley, Yusuke Nakamura, Michiaki Kubo, Susan G. Dorsey, M. Eileen Dolan, Michael J. Morris, Mark J. Ratain, Howard L. McLeod
Clin Cancer Res. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Clin Cancer Res. 2016 Oct 1; 22(19): 4890–4900. Published online 2016 May 3. doi: 10.1158/1078-0432.CCR-15-2823
PMCID:
PMC5050068
AbstractArticlePDF–294K
5.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Guy M. Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A. Hsu, Wolfram S. Kunz, Miriam H. Meisler, Rafal Ploski
Am J Hum Genet. 2016 Jul 7; 99(1): 188–194. Published online 2016 Jun 9. doi: 10.1016/j.ajhg.2016.05.008
PMCID:
PMC5005439
AbstractArticlePDF–1.0M
6.
Phosphatidylinositol 3,5-bisphosphate: Regulation of cellular events in space and time
Natsuko Jin, Michael J. Lang, Lois S. Weisman
Biochem Soc Trans. Author manuscript; available in PMC 2017 Feb 15.
Published in final edited form as: Biochem Soc Trans. 2016 Feb 15; 44(1): 177–184. doi: 10.1042/BST20150174
PMCID:
PMC4836390
AbstractArticlePDF–629K
7.
The Vac14-interaction Network Is Linked to Regulators of the Endolysosomal and Autophagic Pathway
Ulf Schulze, Beate Vollenbröker, Daniela A. Braun, Truc Van Le, Daniel Granado, Joachim Kremerskothen, Benjamin Fränzel, Rafael Klosowski, Johannes Barth, Christian Fufezan, Dirk A. Wolters, Hermann Pavenstädt, Thomas Weide
Mol Cell Proteomics. 2014 Jun; 13(6): 1397–1411. Published online 2014 Feb 27. doi: 10.1074/mcp.M113.034108
PMCID:
PMC4047462
AbstractArticlePDF–3.0M
8.
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice
Yanling Zhang, Sergey N. Zolov, Clement Y. Chow, Shalom G. Slutsky, Simon C. Richardson, Robert C. Piper, Baoli Yang, Johnathan J. Nau, Randal J. Westrick, Sean J. Morrison, Miriam H. Meisler, Lois S. Weisman
Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17518–17523. Published online 2007 Oct 23. doi: 10.1073/pnas.0702275104
PMCID:
PMC2077288
AbstractArticlePDF–1.7M
9.
APP controls the formation of PI(3,5)P2 vesicles through its binding of the PIKfyve complex
Heather Currinn, Benjamin Guscott, Zita Balklava, Alice Rothnie, Thomas Wassmer
Cell Mol Life Sci. 2016 Jan; 73(2): 393–408. Published online 2015 Jul 28. doi: 10.1007/s00018-015-1993-0
PMCID:
PMC4706845
AbstractArticlePDF–7.7M
10.
A Mammalian Ortholog of Saccharomyces cerevisiae Vac14 That Associates with and Up-Regulates PIKfyve Phosphoinositide 5-Kinase Activity
Diego Sbrissa, Ognian C. Ikonomov, Jana Strakova, Rajeswari Dondapati, Krzysztof Mlak, Robert Deeb, Robert Silver, Assia Shisheva
Mol Cell Biol. 2004 Dec; 24(23): 10437–10447. doi: 10.1128/MCB.24.23.10437-10447.2004
PMCID:
PMC529046
AbstractArticlePDF–868K
11.
ArPIKfyve Regulates Sac3 Protein Abundance and Turnover: DISRUPTION OF THE MECHANISM BY Sac3I41T MUTATION CAUSING CHARCOT-MARIE-TOOTH 4J DISORDER
Ognian C. Ikonomov, Diego Sbrissa, Jason Fligger, Khortnal Delvecchio, Assia Shisheva
J Biol Chem. 2010 Aug 27; 285(35): 26760–26764. Published online 2010 Jul 14. doi: 10.1074/jbc.C110.154658
PMCID:
PMC2930674
AbstractArticlePDF–1.3M
12.
PIKfyve-ArPIKfyve-Sac3 Core Complex: CONTACT SITES AND THEIR CONSEQUENCE FOR Sac3 PHOSPHATASE ACTIVITY AND ENDOCYTIC MEMBRANE HOMEOSTASIS
Ognian C. Ikonomov, Diego Sbrissa, Homer Fenner, Assia Shisheva
J Biol Chem. 2009 Dec 18; 284(51): 35794–35806. Published online 2009 Oct 19. doi: 10.1074/jbc.M109.037515
PMCID:
PMC2791009
AbstractArticlePDF–2.6M
13.
ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality
Diego Sbrissa, Ognian C. Ikonomov, Homer Fenner, Assia Shisheva
J Mol Biol. Author manuscript; available in PMC 2009 Dec 26.
Published in final edited form as: J Mol Biol. 2008 Dec 26; 384(4): 766–779. Published online 2008 Oct 11. doi: 10.1016/j.jmb.2008.10.009
PMCID:
PMC2756758
AbstractArticlePDF–1.8M
14.
A cell-permeable tool for analysing APP intracellular domain function and manipulation of PIKfyve activity
Benjamin Guscott, Zita Balklava, Stephen T. Safrany, Thomas Wassmer
Biosci Rep. 2016 Apr; 36(2): e00319. Prepublished online 2016 Mar 2. Published online 2016 Apr 15. doi: 10.1042/BSR20160040
PMCID:
PMC5293579
AbstractArticlePDF–1.7M
15.
The Amyloid Precursor Protein Controls PIKfyve Function
Zita Balklava, Christian Niehage, Heather Currinn, Laura Mellor, Benjamin Guscott, Gino Poulin, Bernard Hoflack, Thomas Wassmer
PLoS One. 2015; 10(6): e0130485. Published online 2015 Jun 30. doi: 10.1371/journal.pone.0130485
PMCID:
PMC4488396
AbstractArticlePDF–9.5M
16.
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse
Natsuko Jin, Clement Y Chow, Li Liu, Sergey N Zolov, Roderick Bronson, Muriel Davisson, Jason L Petersen, Yanling Zhang, Sujin Park, Jason E Duex, Daniel Goldowitz, Miriam H Meisler, Lois S Weisman
EMBO J. 2008 Dec 17; 27(24): 3221–3234. Published online 2008 Nov 27. doi: 10.1038/emboj.2008.248
PMCID:
PMC2600653
AbstractArticlePDF–1.4M
17.
Nbeal2 interacts with Dock7, Sec16a, and Vac14
Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero
Blood. 2018 Mar 1; 131(9): 1000–1011. Prepublished online 2017 Nov 29. doi: 10.1182/blood-2017-08-800359
PMCID:
PMC5877783
AbstractArticle
18.
Interaction Proteomics Identify NEURL4 and the HECT E3 Ligase HERC2 as Novel Modulators of Centrosome Architecture
Abdallah K. Al-Hakim, Mikhail Bashkurov, Anne-Claude Gingras, Daniel Durocher, Laurence Pelletier
Mol Cell Proteomics. 2012 Jun; 11(6): M111.014233. Published online 2012 Jan 20. doi: 10.1074/mcp.M111.014233
PMCID:
PMC3433907
AbstractArticlePDF–1.8M
19.
A Genome-Wide Knockout Screen in Human Macrophages Identified Host Factors Modulating Salmonella Infection
Amy T. Y. Yeung, Yoon Ha Choi, Amy H. Y. Lee, Christine Hale, Hannes Ponstingl, Derek Pickard, David Goulding, Mark Thomas, Erin Gill, Jong Kyoung Kim, Allan Bradley, Robert E. W. Hancock, Gordon Dougan
mBio. 2019 Sep-Oct; 10(5): e02169-19. Published online 2019 Oct 8. doi: 10.1128/mBio.02169-19
PMCID:
PMC6786873
AbstractArticlePDF–2.2M
20.
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
AbstractArticlePDF–4.5M

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