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Items: 1 to 20 of 38

1.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley
J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295
PMCID:
PMC10641524
AbstractArticlePDF–3.8M
2.
A Novel Variant in VPS13B Underlying Cohen Syndrome
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Suzanne M. Leal, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
Biomed Res Int. 2023; 2023: 9993801. Published online 2023 Apr 12. doi: 10.1155/2023/9993801
PMCID:
PMC10115529
AbstractArticlePDF–604K
3.
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
Malte Zorn, Jirko Kühnisch, Sebastian Bachmann, Wenke Seifert
Sci Rep. 2022; 12: 9686. Published online 2022 Jun 11. doi: 10.1038/s41598-022-13717-w
PMCID:
PMC9188546
AbstractArticlePDF–1.8M
4.
Physical and functional interactome atlas of human receptor tyrosine kinases
Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
PMCID:
PMC9171411
AbstractArticlePDF–1.9M
5.
C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy
Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell
Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116
PMCID:
PMC9037554
AbstractArticlePDF–4.1M
6.
RNF43 inhibits WNT5A-driven signaling and suppresses melanoma invasion and resistance to the targeted therapy
Tomasz Radaszkiewicz, Michaela Nosková, Kristína Gömöryová, Olga Vondálová Blanářová, Katarzyna Anna Radaszkiewicz, Markéta Picková, Ráchel Víchová, Tomáš Gybeľ, Karol Kaiser, Lucia Demková, Lucia Kučerová, Tomáš Bárta, David Potěšil, Zbyněk Zdráhal, Karel Souček, Vítězslav Bryja
eLife. 2021; 10: e65759. Published online 2021 Oct 27. doi: 10.7554/eLife.65759
PMCID:
PMC8550759
AbstractArticlePDF–7.4M
7.
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
8.
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
Betty Bonfante, Pierre Faux, Nicolas Navarro, Javier Mendoza-Revilla, Morgane Dubied, Charlotte Montillot, Emma Wentworth, Lauriane Poloni, Ceferino Varón-González, Philip Jones, Ziyi Xiong, Macarena Fuentes-Guajardo, Sagnik Palmal, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Fan Liu, Seth M. Weinberg, John R. Shaffer, Evie Stergiakouli, Laurence J. Howe, Pirro G. Hysi, Timothy D. Spector, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Christel Thauvin-Robinet, Laurence Faivre, Caroline Costedoat, David Balding, Timothy Cox, Manfred Kayser, Laurence Duplomb, Binnaz Yalcin, Justin Cotney, Kaustubh Adhikari, Andrés Ruiz-Linares
Sci Adv. 2021 Feb; 7(6): eabc6160. Published online 2021 Feb 5. doi: 10.1126/sciadv.abc6160
PMCID:
PMC7864580
AbstractArticlePDF–6.7M
9.
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F. Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa
Invest Ophthalmol Vis Sci. 2020 Sep; 61(11): 18. Published online 2020 Sep 11. doi: 10.1167/iovs.61.11.18
PMCID:
PMC7488618
AbstractArticlePDF–16M
10.
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger
Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001
PMCID:
PMC7427327
AbstractArticle
11.
Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes
You-Kyung Lee, Su-Kyeong Hwang, Soo-Kyung Lee, Jung-eun Yang, Ji-Hye Kwak, Hyunhyo Seo, Hyunjun Ahn, Yong-Seok Lee, Janghwan Kim, Chae-Seok Lim, Bong-Kiun Kaang, Jae-Hyung Lee, Jin-A Lee, Kyungmin Lee
J Clin Med. 2020 Jun; 9(6): 1886. Published online 2020 Jun 16. doi: 10.3390/jcm9061886
PMCID:
PMC7356975
AbstractArticlePDF–2.3M
12.
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee
Mol Brain. 2020; 13: 69. Published online 2020 May 6. doi: 10.1186/s13041-020-00611-7
PMCID:
PMC7203861
AbstractArticlePDF–755K
13.
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
BMC Med Genet. 2019; 20: 187. Published online 2019 Nov 21. doi: 10.1186/s12881-019-0920-x
PMCID:
PMC6873578
AbstractArticlePDF–1.0M
14.
SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors
Seiichi Koike, Reinhard Jahn
Nat Commun. 2019; 10: 1608. Published online 2019 Apr 8. doi: 10.1038/s41467-019-09617-9
PMCID:
PMC6453939
AbstractArticlePDF–5.9M
15.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
AbstractArticlePDF–1.7M
16.
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
Madelyn A. Gillentine, Christian P. Schaaf, Ankita Patel
Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 17.
Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2485–2488. Published online 2017 Jun 20. doi: 10.1002/ajmg.a.38328
PMCID:
PMC6240332
AbstractArticlePDF–162K
17.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
18.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
19.
An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations
Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo
Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2
PMCID:
PMC5864832
AbstractArticlePDF–4.5M
20.
Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells
Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo
Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31
PMCID:
PMC5839158
AbstractArticlePDF–1.9M

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