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Items: 18

1.
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima
Acta Neuropathol Commun. 2024; 12: 136. Published online 2024 Aug 23. doi: 10.1186/s40478-024-01847-3
PMCID:
PMC11342542
AbstractArticlePDF–3.4M
2.
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review
Tianxue Zhao, Shaokun Xu, Siyue Liu, Juan Xu, Xianfeng Zhang, Yuhong Zhan
Mol Genet Genomic Med. 2023 Dec; 11(12): e2276. Published online 2023 Sep 7. doi: 10.1002/mgg3.2276
PMCID:
PMC10724521
AbstractArticlePDF–3.1M
3.
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
4.
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity
Richard W. Meek, Jacob Brockerman, Osei B. Fordwour, Wesley F. Zandberg, Gideon J. Davies, David J. Vocadlo
PLoS Biol. 2022 Sep; 20(9): e3001764. Published online 2022 Sep 21. doi: 10.1371/journal.pbio.3001764
PMCID:
PMC9491548
AbstractArticlePDF–2.5M
5.
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
6.
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
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.
TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination
Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan
Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911
PMCID:
PMC7392491
AbstractArticlePDF–14M
9.
MYORG is associated with recessive primary familial brain calcification
David Arkadir, Alexander Lossos, Dolev Rahat, Muneer Abu Snineh, Ora Schueler‐Furman, Silvia Nitschke, Berge A. Minassian, Yair Sadaka, Israela Lerer, Yuval Tabach, Vardiella Meiner
Ann Clin Transl Neurol. 2019 Jan; 6(1): 106–113. Published online 2018 Nov 15. doi: 10.1002/acn3.684
PMCID:
PMC6331209
AbstractArticlePDF–538K
10.
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2
Marisa Cappella, Alessandra Perfetti, Beatrice Cardinali, Jose Manuel Garcia-Manteiga, Matteo Carrara, Claudia Provenzano, Paola Fuschi, Rosanna Cardani, Laura Valentina Renna, Giovanni Meola, Germana Falcone, Fabio Martelli
Cell Death Dis. 2018 Jul; 9(7): 729. Published online 2018 Jun 28. doi: 10.1038/s41419-018-0769-5
PMCID:
PMC6023919
AbstractArticlePDF–1.2M
11.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
12.
A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling
Parveen Kumar, Prathyusha Munnangi, KVS Rammohan Chowdary, Varun J. Shah, Swapnil R. Shinde, Nanci R. Kolli, Rachita R. Halehalli, Hampapathalu A. Nagarajaram, Subbareddy Maddika
J Proteome Res. 2017 Aug 4; 16(8): 2789–2801. Published online 2017 Jul 4. doi: 10.1021/acs.jproteome.7b00065
PMCID:
PMC5548413
AbstractArticlePDF–5.2M
13.
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
14.
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
15.
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
16.
Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer’s disease
J Chapuis, D Hot, F Hansmannel, O Kerdraon, S Ferreira, C Hubans, CA Maurage, L Huot, F Bensemain, G Laumet, AM Ayral, N Fievet, JJ Hauw, ST DeKosky, Y Lemoine, T Iwatsubo, F Wavrant-Devrièze, JF Dartigues, C Tzourio, L Buée, F Pasquier, C Berr, D Mann, C Lendon, A Alpérovitch, MI Kamboh, P Amouyel, JC Lambert
Mol Psychiatry. Author manuscript; available in PMC 2010 Apr 28.
Published in final edited form as: Mol Psychiatry. 2009 Nov; 14(11): 1004–1016. Published online 2009 Feb 10. doi: 10.1038/mp.2009.10
PMCID:
PMC2860783
AbstractArticlePDF–1.3M
17.
NET37, a Nuclear Envelope Transmembrane Protein with Glycosidase Homology, Is Involved in Myoblast Differentiation
Kaustuv Datta, Tinglu Guan, Larry Gerace
J Biol Chem. 2009 Oct 23; 284(43): 29666–29676. Published online 2009 Aug 25. doi: 10.1074/jbc.M109.034041
PMCID:
PMC2785598
AbstractArticlePDF–2.4M
18.
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
AbstractArticlePDF–118K

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