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Items: 1 to 20 of 34

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.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
3.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
4.
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
5.
Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation
Saki Sultana, Jacklyn Stewart, Aarnoud C. van der Spoel
PLoS One. 2020; 15(6): e0233856. Published online 2020 Jun 3. doi: 10.1371/journal.pone.0233856
PMCID:
PMC7269613
AbstractArticlePDF–4.2M
6.
FAM105A/OTULINL is a pseudodebuiquitinase of the OTU-class that localizes to the ER membrane
Derek F. Ceccarelli, Sofiia Ivantsiv, Amber Anne Mullin, Etienne Coyaud, Noah Manczyk, Pierre Maisonneuve, Igor Kurinov, Liang Zhao, Chris Go, Anne-Claude Gingras, Brian Raught, Sabine Cordes, Frank Sicheri
Structure. Author manuscript; available in PMC 2020 Jun 4.
Published in final edited form as: Structure. 2019 Jun 4; 27(6): 1000–1012.e6. Published online 2019 May 2. doi: 10.1016/j.str.2019.03.022
PMCID:
PMC6551266
AbstractArticlePDF–3.4M
7.
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations
Marina A. Woeste, Sina Stern, Diana N. Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N. Hansen, Sophie Schonauer, Carina E. Marx, Hussein Hamzeh, Heinz G. Körschen, Johannes M. F. G. Aerts, Wolfgang Bönigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K. Berger, Frank Bradke, Dagmar Wachten
J Biol Chem. 2019 Mar 15; 294(11): 3853–3871. Published online 2019 Jan 20. doi: 10.1074/jbc.RA118.006311
PMCID:
PMC6422076
AbstractArticlePDF–4.1M
8.
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Int J Mol Sci. 2018 Oct; 19(10): 3099. Published online 2018 Oct 10. doi: 10.3390/ijms19103099
PMCID:
PMC6213336
AbstractArticlePDF–1.2M
9.
Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells
Domitilla Schiumarini, Nicoletta Loberto, Giulia Mancini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Maura Samarani, Silvia Munari, Anna Tamanini, Giulio Cabrini, Giuseppe Lippi, Maria Cristina Dechecchi, Sandro Sonnino, Massimo Aureli
Mediators Inflamm. 2017; 2017: 1730245. Published online 2017 Dec 3. doi: 10.1155/2017/1730245
PMCID:
PMC5733190
AbstractArticlePDF–2.4M
10.
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
11.
Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease
Sophie Schonauer, Heinz G. Körschen, Anke Penno, Andreas Rennhack, Bernadette Breiden, Konrad Sandhoff, Katharina Gutbrod, Peter Dörmann, Diana N. Raju, Per Haberkant, Mathias J. Gerl, Britta Brügger, Hila Zigdon, Ayelet Vardi, Anthony H. Futerman, Christoph Thiele, Dagmar Wachten
J Biol Chem. 2017 Apr 14; 292(15): 6177–6189. Published online 2017 Mar 3. doi: 10.1074/jbc.M116.762831
PMCID:
PMC5391749
AbstractArticlePDF–1.8M
12.
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies
Kristoffer Haugarvoll, Stefan Johansson, Carlos E. Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A. Bindoff
PLoS One. 2017; 12(1): e0169309. Published online 2017 Jan 4. doi: 10.1371/journal.pone.0169309
PMCID:
PMC5215700
AbstractArticlePDF–1.8M
13.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
14.
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Caroline Ran, Lovisa Brodin, Lars Forsgren, Marie Westerlund, Mehrafarin Ramezani, Sandra Gellhaar, Fengqing Xiang, Camilla Fardell, Hans Nissbrandt, Peter Söderkvist, Andreas Puschmann, Emil Ygland, Lars Olson, Thomas Willows, Anders Johansson, Olof Sydow, Karin Wirdefeldt, Dagmar Galter, Per Svenningsson, Andrea Carmine Belin
Neurobiol Aging. 2016 Sep; 45: 212.e5–212.e11. doi: 10.1016/j.neurobiolaging.2016.04.022
PMCID:
PMC4982543
AbstractArticle
15.
Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2)
Ratana Charoenwattanasatien, Salila Pengthaisong, Imogen Breen, Risa Mutoh, Sompong Sansenya, Yanling Hua, Anupong Tankrathok, Liang Wu, Chomphunuch Songsiriritthigul, Hideaki Tanaka, Spencer J. Williams, Gideon J. Davies, Genji Kurisu, James R. Ketudat Cairns
ACS Chem Biol. 2016 Jul 15; 11(7): 1891–1900. Published online 2016 Apr 26. doi: 10.1021/acschembio.6b00192
PMCID:
PMC4949581
AbstractArticlePDF–5.0M
16.
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen
Orphanet J Rare Dis. 2013; 8: 151. Published online 2013 Sep 26. doi: 10.1186/1750-1172-8-151
PMCID:
PMC3850879
AbstractArticlePDF–509K
17.
β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology
Christina M. Ridley, Karen E. Thur, Jessica Shanahan, Nagendra Babu Thillaiappan, Ann Shen, Karly Uhl, Charlotte M. Walden, Ahad A. Rahim, Simon N. Waddington, Frances M. Platt, Aarnoud C. van der Spoel
J Biol Chem. 2013 Sep 6; 288(36): 26052–26066. Published online 2013 Jul 23. doi: 10.1074/jbc.M113.463562
PMCID:
PMC3764809
AbstractArticlePDF–3.0M
18.
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V. Schottlaender, Houda Nehdi, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Anna Sailer, Guoxiang Liu, Pramod K. Mistry, Huaibin Cai, Ginamarie Shrader, Celeste Sassi, Yosr Bouhlal, Henry Houlden, Fayçal Hentati, Rim Amouri, Andrew B. Singleton
Am J Hum Genet. 2013 Feb 7; 92(2): 245–251. doi: 10.1016/j.ajhg.2012.12.012
PMCID:
PMC3567281
AbstractArticlePDF–601K
19.
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L. Loureiro, Michael A. Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner, Ludmila Jornea, Andrés Caballero Oteyza, Alexandra Durr, Jean-Jacques Martin, Ludger Schöls, Chokri Mhiri, Foudil Lamari, Stephan Züchner, Peter De Jonghe, Edor Kabashi, Alexis Brice, Giovanni Stevanin
Am J Hum Genet. 2013 Feb 7; 92(2): 238–244. doi: 10.1016/j.ajhg.2012.11.021
PMCID:
PMC3567271
AbstractArticlePDF–752K
20.
The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi
Heinz G. Körschen, Yildiz Yildiz, Diana Nancy Raju, Sophie Schonauer, Wolfgang Bönigk, Vera Jansen, Elisabeth Kremmer, U. Benjamin Kaupp, Dagmar Wachten
J Biol Chem. 2013 Feb 1; 288(5): 3381–3393. Published online 2012 Dec 17. doi: 10.1074/jbc.M112.414714
PMCID:
PMC3561557
AbstractArticlePDF–3.4M

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