PMC Links for Gene (Select 140775) - PMC

Dan Tang, Jingwen Sheng, Liangting Xu, Xiechao Zhan, Jiaming Liu, Hui Jiang, Xiaoling Shu, Xiaoyu Liu, Tizhong Zhang, Lan Jiang, Cuiyan Zhou, Wenqi Li, Wei Cheng, Zhonghan Li, Kunjie Wang, Kefeng Lu, Chuangye Yan, Shiqian Qi

Proc Natl Acad Sci U S A. 2020 May 5; 117(18): 9876–9883. Published online 2020 Apr 17. doi: 10.1073/pnas.2002110117

PMCID:: PMC7211967

Abstract Article PDF–2.4M

Select item 107231475.

ALS-linked C9orf72–SMCR8 complex is a negative regulator of primary ciliogenesis

Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi

Proc Natl Acad Sci U S A. 2023 Dec 12; 120(50): e2220496120. Published online 2023 Dec 8. doi: 10.1073/pnas.2220496120

PMCID:: PMC10723147

Abstract Article PDF–8.3M

Select item 50636136.

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

Joseph Amick, Agnes Roczniak-Ferguson, Shawn M. Ferguson

Mol Biol Cell. 2016 Oct 15; 27(20): 3040–3051. doi: 10.1091/mbc.E16-01-0003

PMCID:: PMC5063613

Abstract Article PDF–3.2M

Select item 53230467.

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

Jennifer Jung, Arnab Nayak, Véronique Schaeffer, Tatjana Starzetz, Achim K Kirsch, Stefan Müller, Ivan Dikic, Michel Mittelbronn, Christian Behrends

eLife. 2017; 6: e23063. Published online 2017 Feb 14. doi: 10.7554/eLife.23063

PMCID:: PMC5323046

Abstract Article PDF–5.8M

Select item 60750338.

The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis

Yingying Zhang, Aaron Burberry, Jin-Yuan Wang, Jackson Sandoe, Sulagna Ghosh, Namrata D. Udeshi, Tanya Svinkina, Daniel A. Mordes, Joanie Mok, Maura Charlton, Quan-Zhen Li, Steven A. Carr, Kevin Eggan

Genes Dev. 2018 Jul 1; 32(13-14): 929–943. doi: 10.1101/gad.313932.118

PMCID:: PMC6075033

Abstract Article PDF–6.0M

Select item 48708129.

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

Peter M. Sullivan, Xiaolai Zhou, Adam M. Robins, Daniel H. Paushter, Dongsung Kim, Marcus B. Smolka, Fenghua Hu

Acta Neuropathol Commun. 2016; 4: 51. Published online 2016 May 18. doi: 10.1186/s40478-016-0324-5

PMCID:: PMC4870812

Abstract Article PDF–5.1M

Select item 652686710.

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

Wan Yun Ho, Yee Kit Tai, Jer-Cherng Chang, Jason Liang, Sheue-Houy Tyan, Song Chen, Jun-Lin Guan, Huilin Zhou, Han-Ming Shen, Edward Koo, Shuo-Chien Ling

Autophagy. 2019; 15(5): 827–842. Published online 2019 Jan 28. doi: 10.1080/15548627.2019.1569441

PMCID:: PMC6526867

Abstract Article PDF–3.1M

Select item 501036911.

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen

Sci Adv. 2016 Sep; 2(9): e1601167. Published online 2016 Sep 2. doi: 10.1126/sciadv.1601167

PMCID:: PMC5010369

Abstract Article PDF–11M

Select item 18659412.

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung-Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koen Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski

Genome Res. 2002 May; 12(5): 713–728. doi: 10.1101/gr.73702

PMCID:: PMC186594

Abstract Article PDF–611K

Select item 532576313.

HSP90 shapes the consequences of human genetic variation

Georgios I. Karras, Song Yi, Nidhi Sahni, Máté Fischer, Jenny Xie, Marc Vidal, Alan D. D'Andrea, Luke Whitesell, Susan Lindquist

Cell. Author manuscript; available in PMC 2018 Feb 23.

Published in final edited form as: Cell. 2017 Feb 23; 168(5): 856–866.e12. Published online 2017 Feb 16. doi: 10.1016/j.cell.2017.01.023

PMCID:: PMC5325763

Abstract Article PDF–2.4M

Select item 491053314.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand

EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350

PMCID:: PMC4910533

Abstract Article PDF–1.5M

Select item 342034015.

MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity

Oliver Stehling, Ajay A. Vashisht, Judita Mascarenhas, Zophonias O. Jonsson, Tanu Sharma, Daili J.A. Netz, Antonio J. Pierik, James A. Wohlschlegel, Roland Lill

Science. Author manuscript; available in PMC 2013 Jan 13.

Published in final edited form as: Science. 2012 Jul 13; 337(6091): 195–199. Published online 2012 Jun 7. doi: 10.1126/science.1219723

PMCID:: PMC3420340

Abstract Article PDF–1.8M

Select item 825771216.

FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates

David Schlütermann, Niklas Berleth, Jana Deitersen, Nora Wallot-Hieke, Olena Friesen, Wenxian Wu, Fabian Stuhldreier, Yadong Sun, Lena Berning, Annabelle Friedrich, María José Mendiburo, Christoph Peter, Constanze Wiek, Helmut Hanenberg, Anja Stefanski, Kai Stühler, Björn Stork

Sci Rep. 2021; 11: 13863. Published online 2021 Jul 5. doi: 10.1038/s41598-021-92408-4

PMCID:: PMC8257712

Abstract Article PDF–3.2M

Select item 1032325217.

Proximity labelling identifies pro-migratory endocytic recycling cargo and machinery of the Rab4 and Rab11 families

Beverley Wilson, Chloe Flett, Jakub Gemperle, Craig Lawless, Matthew Hartshorn, Eleanor Hinde, Tess Harrison, Megan Chastney, Sarah Taylor, Jennifer Allen, Jim C. Norman, Thomas Zacharchenko, Patrick T. Caswell

J Cell Sci. 2023 Jun 15; 136(12): jcs260468. Published online 2023 Jun 23. doi: 10.1242/jcs.260468

PMCID:: PMC10323252

Abstract Article

Select item 484876218.

Pooled‐matrix protein interaction screens using Barcode Fusion Genetics

Nozomu Yachie, Evangelia Petsalaki, Joseph C Mellor, Jochen Weile, Yves Jacob, Marta Verby, Sedide B Ozturk, Siyang Li, Atina G Cote, Roberto Mosca, Jennifer J Knapp, Minjeong Ko, Analyn Yu, Marinella Gebbia, Nidhi Sahni, Song Yi, Tanya Tyagi, Dayag Sheykhkarimli, Jonathan F Roth, Cassandra Wong, Louai Musa, Jamie Snider, Yi‐Chun Liu, Haiyuan Yu, Pascal Braun, Igor Stagljar, Tong Hao, Michael A Calderwood, Laurence Pelletier, Patrick Aloy, David E Hill, Marc Vidal, Frederick P Roth

Mol Syst Biol. 2016 Apr; 12(4): 863. Published online 2016 Apr 23. doi: 10.15252/msb.20156660

PMCID:: PMC4848762

Abstract Article PDF–2.8M

Select item 290199819.

Network organization of the human autophagy system

Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 68–76. Published online 2010 Jun 20. doi: 10.1038/nature09204

PMCID:: PMC2901998

Abstract Article PDF–1.4M

Select item 655126620.

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

Abstract Article PDF–3.4M

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PMC Links for Gene (Select 140775) (36)
PMC
son of sevenless homolog 2 isoform X2 [Homo sapiens]
son of sevenless homolog 2 isoform X2 [Homo sapiens]
gi|2217298367|ref|XP_047287670.1|

Protein
RNA polymerase B, partial (chloroplast) [Luzula campestris]
RNA polymerase B, partial (chloroplast) [Luzula campestris]
gi|242823383|gb|ACS93836.1|

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