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Select item 92626141.

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

Abstract Article PDF–3.6M

Select item 91052352.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 90375543.

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

Abstract Article PDF–4.1M

Select item 81650304.

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

Abstract Article PDF–2.2M

Select item 81179425.

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Malena Daich Varela, Priyam Jani, Wadih M. Zein, Precilla D'Souza, Lynne Wolfe, Jennifer Chisholm, Christopher Zalewski, David Adams, Blake M. Warner, Laryssa A. Huryn, Robert B. Hufnagel

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 618–630. Published online 2020 Aug 31. doi: 10.1002/ajmg.c.31823

PMCID:: PMC8117942

Abstract Article PDF–1.3M

Select item 77376106.

Receptor‐mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy

Amelia E Ohnstad, Jose M Delgado, Brian J North, Isha Nasa, Arminja N Kettenbach, Sebastian W Schultz, Christopher J Shoemaker

EMBO J. 2020 Dec 15; 39(24): e104948. Published online 2020 Nov 23. doi: 10.15252/embj.2020104948

PMCID:: PMC7737610

Abstract Article PDF–3.7M

Select item 70902707.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

Gema García-García, Iker Sanchez-Navarro, Elena Aller, Teresa Jaijo, Carla Fuster-Garcia, Ana Rodríguez-Munoz, Elena Vallejo, Juan José Tellería, Selma Vázquez, Sergi Beltrán, Sophia Derdak, Olga Zurita, Cristina Villaverde-Montero, Almudena Avila-Fernández, Marta Corton, Fiona Blanco-Kelly, Hakon Hakonarson, José M. Millán, Carmen Ayuso

Mol Vis. 2020; 26: 216–225. Published online 2020 Mar 18.

PMCID:: PMC7090270

Abstract Article PDF–1.4M

Select item 69420448.

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity

Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller

Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119

PMCID:: PMC6942044

Abstract Article PDF–10M

Select item 69277549.

Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC

Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong

eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223

PMCID:: PMC6927754

Abstract Article PDF–5.1M

Select item 690957810.

Expanding the clinical and genetic spectrum of Heimler syndrome

Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu, Ji-Hong Wu

Orphanet J Rare Dis. 2019; 14: 290. Published online 2019 Dec 12. doi: 10.1186/s13023-019-1243-x

PMCID:: PMC6909578

Abstract Article PDF–2.1M

Select item 669616411.

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex

Anne Schieferdecker, Petra Wendler

Int J Mol Sci. 2019 Aug; 20(15): 3756. Published online 2019 Aug 1. doi: 10.3390/ijms20153756

PMCID:: PMC6696164

Abstract Article PDF–3.5M

Select item 620775612.

Chemically monoubiquitinated PEX5 binds to the components of the peroxisomal docking and export machinery

Vera Hagmann, Stefanie Sommer, Patrick Fabian, Jan Bierlmeier, Nadine van Treel, Henning D. Mootz, Dirk Schwarzer, Jorge E. Azevedo, Gabriele Dodt

Sci Rep. 2018; 8: 16014. Published online 2018 Oct 30. doi: 10.1038/s41598-018-34200-5

PMCID:: PMC6207756

Abstract Article PDF–1.7M

Select item 606519713.

Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol

Ana G. Pedrosa, Tânia Francisco, Diana Bicho, Ana F. Dias, Aurora Barros-Barbosa, Vera Hagmann, Gabriele Dodt, Tony A. Rodrigues, Jorge E. Azevedo

J Biol Chem. 2018 Jul 20; 293(29): 11553–11563. Published online 2018 Jun 8. doi: 10.1074/jbc.RA118.003669

PMCID:: PMC6065197

Abstract Article PDF–1.5M

Select item 581289514.

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Kim D. Falkenberg, Nancy E. Braverman, Ann B. Moser, Steven J. Steinberg, Femke C.C. Klouwer, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Martin Engvall, Karin Naess, FrancJan van Spronsen, Irene Körver-Keularts, M. Estela Rubio-Gozalbo, Sacha Ferdinandusse, Ronald J.A. Wanders, Hans R. Waterham

Am J Hum Genet. 2017 Dec 7; 101(6): 965–976. Published online 2017 Dec 7. doi: 10.1016/j.ajhg.2017.11.007

PMCID:: PMC5812895

Abstract Article PDF–1.2M

Select item 567959715.

Proteomic analysis reveals novel ligands and substrates for LNX1 E3 ubiquitin ligase

Joan A. Lenihan, Orthis Saha, Paul W. Young

PLoS One. 2017; 12(11): e0187352. Published online 2017 Nov 9. doi: 10.1371/journal.pone.0187352

PMCID:: PMC5679597

Abstract Article PDF–10M

Select item 553161116.

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

Abstract Article PDF–2.7M

Select item 520759917.

Strong cis-acting expression quantitative trait loci for the genes encoding SNHG5 and PEX6

Jihyeon Lee, Jihye Ryu, Chaeyoung Lee

Medicine (Baltimore) 2016 Dec; 95(52): e5793. Published online 2016 Dec 30. doi: 10.1097/MD.0000000000005793

PMCID:: PMC5207599

Abstract Article PDF–379K

Select item 502682118.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, Chris F Inglehearn

Eur J Hum Genet. 2016 Nov; 24(11): 1565–1571. Published online 2016 Jun 15. doi: 10.1038/ejhg.2016.62

PMCID:: PMC5026821

Abstract Article PDF–1.4M

Select item 497067519.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Claire Guissart, Nathalie Drouot, Ibrahim Oncel, Bruno Leheup, Ruth Gershoni-Barush, Jean Muller, Sacha Ferdinandusse, Lise Larrieu, Mathieu Anheim, Elif Acar Arslan, Mireille Claustres, Christine Tranchant, Haluk Topaloglu, Michel Koenig

Eur J Hum Genet. 2016 Aug; 24(8): 1154–1159. Published online 2015 Dec 16. doi: 10.1038/ejhg.2015.259

PMCID:: PMC4970675

Abstract Article PDF–1.6M

Select item 480359120.

Structures of the double-ring AAA ATPase Pex1/Pex6 involved in peroxisome biogenesis

Dongyan Tan, Neil B. Blok, Tom A. Rapoport, Thomas Walz

FEBS J. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: FEBS J. 2016 Mar; 283(6): 986–992. Published online 2015 Nov 12. doi: 10.1111/febs.13569

PMCID:: PMC4803591

Abstract Article PDF–787K

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