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Items: 1 to 20 of 61

1.
Evolution of the human mitochondrial ABCB7 [2Fe–2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation
Stephen A. Pearson, J.A. Cowan
Arch Biochem Biophys. Author manuscript; available in PMC 2022 Jan 15.
Published in final edited form as: Arch Biochem Biophys. 2021 Jan 15; 697: 108661. Published online 2020 Nov 3. doi: 10.1016/j.abb.2020.108661
PMCID:
PMC7785629
AbstractArticlePDF–1.2M
2.
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry
Maria S Protasova, Anastasia P Grigorenko, Tatiana V Tyazhelova, Tatiana V Andreeva, Denis A Reshetov, Fedor E Gusev, Alexander E Laptenko, Irina L Kuznetsova, Andrey Y Goltsov, Sergey A Klyushnikov, Sergey N Illarioshkin, Evgeny I Rogaev
Eur J Hum Genet. 2016 Apr; 24(4): 550–555. Published online 2015 Aug 5. doi: 10.1038/ejhg.2015.139
PMCID:
PMC4929865
AbstractArticlePDF–1.5M
3.
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts
Maryam Nikpour, Christian Scharenberg, Anquan Liu, Simona Conte, Mohsen Karimi, Teresa Mortera-Blanco, Valentina Giai, Marta Fernandez-Mercado, Elli Papaemmanuil, Kari Högstrand, Monika Jansson, Inger Vedin, James Stephen Wainscoat, Peter Campbell, Mario Cazzola, Jacqueline Boultwood, Alf Grandien, Eva Hellström-Lindberg
Leukemia. Author manuscript; available in PMC 2013 Oct 10.
Published in final edited form as: Leukemia. 2013 Apr; 27(4): 889–896. Published online 2012 Oct 16. doi: 10.1038/leu.2012.298
PMCID:
PMC3794445
AbstractArticlePDF–319K
4.
Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome
Courtnee A. Clough, Joseph Pangallo, Martina Sarchi, Janine O. Ilagan, Khrystyna North, Rochelle Bergantinos, Massiel C. Stolla, Jasmine Naru, Patrick Nugent, Eunhee Kim, Derek L. Stirewalt, Arvind R. Subramaniam, Omar Abdel-Wahab, Janis L. Abkowitz, Robert K. Bradley, Sergei Doulatov
Blood. 2022 Mar 31; 139(13): 2038–2049. doi: 10.1182/blood.2021012652
PMCID:
PMC8972092
AbstractArticle
5.
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes
H Dolatshad, A Pellagatti, F G Liberante, M Llorian, E Repapi, V Steeples, S Roy, L Scifo, R N Armstrong, J Shaw, B H Yip, S Killick, R Kušec, S Taylor, K I Mills, K I Savage, C W J Smith, J Boultwood
Leukemia. 2016 Dec; 30(12): 2322–2331. Prepublished online 2016 May 23. Published online 2016 Jun 17. doi: 10.1038/leu.2016.149
PMCID:
PMC5029572
AbstractArticlePDF–1.7M
6.
The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J. Littlewood, Luca Malcovati, Matteo G. Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S. Wainscoat
PLoS One. 2008; 3(4): e1970. Published online 2008 Apr 9. doi: 10.1371/journal.pone.0001970
PMCID:
PMC2276313
AbstractArticlePDF–147K
7.
Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis
Nunziata Maio, Ki Soon Kim, Gregory Holmes-Hampton, Anamika Singh, Tracey A. Rouault
Haematologica. 2019 Sep; 104(9): 1756–1767. Prepublished online 2019 Feb 14. doi: 10.3324/haematol.2018.214320
PMCID:
PMC6717564
AbstractArticlePDF–5.9M
8.
Shifting the Paradigm: The Putative Mitochondrial Protein ABCB6 Resides in the Lysosomes of Cells and in the Plasma Membrane of Erythrocytes
Katalin Kiss, Anna Brozik, Nora Kucsma, Alexandra Toth, Melinda Gera, Laurence Berry, Alice Vallentin, Henri Vial, Michel Vidal, Gergely Szakacs
PLoS One. 2012; 7(5): e37378. Published online 2012 May 24. doi: 10.1371/journal.pone.0037378
PMCID:
PMC3360040
AbstractArticlePDF–1.3M
9.
EZH2 and BCL6 Cooperate to Assemble CBX8-BCOR Complex to Repress Bivalent Promoters, Mediate Germinal Center Formation and Lymphomagenesis
Wendy Béguelin, Matt Teater, Micah D. Gearhart, María Teresa Calvo Fernández, Rebecca L. Goldstein, Mariano G. Cárdenas, Katerina Hatzi, Monica Rosen, Hao Shen, Connie M. Corcoran, Michelle Y. Hamline, Randy D. Gascoyne, Ross L. Levine, Omar Abdel-Wahab, Jonathan D. Licht, Rita Shaknovich, Olivier Elemento, Vivian J. Bardwell, Ari M. Melnick
Cancer Cell. Author manuscript; available in PMC 2017 Aug 8.
Published in final edited form as: Cancer Cell. 2016 Aug 8; 30(2): 197–213. doi: 10.1016/j.ccell.2016.07.006
PMCID:
PMC5000552
AbstractArticlePDF–4.1M
10.
Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase
Wenqing Jiang, Shiwen Wang, Mengtao Xiao, Yan Lin, Lisha Zhou, Qunying Lei, Yue Xiong, Kun-Liang Guan, Shimin Zhao
Mol Cell. Author manuscript; available in PMC 2014 Mar 21.
Published in final edited form as: Mol Cell. 2011 Jul 8; 43(1): 33–44. doi: 10.1016/j.molcel.2011.04.028
PMCID:
PMC3962309
AbstractArticlePDF–4.5M
11.
CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI
Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods
Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3
PMCID:
PMC6584691
AbstractArticlePDF–1.6M
12.
Endogenous Cell Type-Specific DISC1 Interactomes Reveal Protein Networks Associated to Neurodevelopmental Disorders
Brent Wilkinson, Oleg Evgrafov, DongQing Zheng, Nicolas Hartel, James A. Knowles, Nicholas A. Graham, Justin Ichida, Marcelo P. Coba
Biol Psychiatry. Author manuscript; available in PMC 2020 Feb 15.
Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 305–316. Published online 2018 May 23. doi: 10.1016/j.biopsych.2018.05.009
PMCID:
PMC6251761
AbstractArticlePDF–1.6M
13.
Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality
Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff
Cancer Cell. Author manuscript; available in PMC 2020 May 13.
Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014
PMCID:
PMC6620028
AbstractArticlePDF–2.9M
14.
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome
Ricarda Richter, Joanna Rorbach, Aleksandra Pajak, Paul M Smith, Hans J Wessels, Martijn A Huynen, Jan A Smeitink, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers
EMBO J. 2010 Mar 17; 29(6): 1116–1125. Published online 2010 Feb 25. doi: 10.1038/emboj.2010.14
PMCID:
PMC2845271
AbstractArticlePDF–1.3M
15.
Systematic VCP-UBXD Adaptor Network Proteomics Identifies a Role for UBXN10 in Regulating Ciliogenesis
Malavika Raman, Mikhail Sergeev, Maija Garnaas, John R. Lydeard, Edward L. Huttlin, Wolfram Goessling, Jagesh V. Shah, J. Wade Harper
Nat Cell Biol. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Nat Cell Biol. 2015 Oct; 17(10): 1356–1369. Published online 2015 Sep 21. doi: 10.1038/ncb3238
Correction in:
Nat Cell Biol. 2016 Mar; 18(3): 347.
PMCID:
PMC4610257
AbstractArticlePDF–4.5M
16.
FAF1 phosphorylation by AKT accumulates TGF-β type II receptor and drives breast cancer metastasis
Feng Xie, Ke Jin, Li Shao, Yao Fan, Yifei Tu, Yihao Li, Bin Yang, Hans van Dam, Peter ten Dijke, Honglei Weng, Steven Dooley, Shuai Wang, Junling Jia, Jin Jin, Fangfang Zhou, Long Zhang
Nat Commun. 2017; 8: 15021. Published online 2017 Apr 26. doi: 10.1038/ncomms15021
PMCID:
PMC5414047
AbstractArticlePDF–4.4M
17.
Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes
Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou
Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4
PMCID:
PMC6498585
AbstractArticlePDF–6.9M
18.
The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer
Weimei Tang, Weijie Zhou, Li Xiang, Xiaosheng Wu, Pei Zhang, Jing Wang, Guangnan Liu, Wenjing Zhang, Ying Peng, Xiaoting Huang, Jianqun Cai, Yang Bai, Lan Bai, Wei Zhu, Hongxiang Gu, Jing Xiong, Chen Ye, Aimin Li, Side Liu, Jide Wang
Nat Commun. 2019; 10: 663. Published online 2019 Feb 8. doi: 10.1038/s41467-018-08225-3
PMCID:
PMC6368584
AbstractArticlePDF–6.8M
19.
Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells
Qing-Hua Zhang, Min Ye, Xin-Yan Wu, Shuang-Xi Ren, Meng Zhao, Chun-Jun Zhao, Gang Fu, Yu Shen, Hui-Yong Fan, Gang Lu, Ming Zhong, Xiang-Ru Xu, Ze-Guang Han, Ji-Wang Zhang, Jiong Tao, Qiu-Hua Huang, Jun Zhou, Geng-Xi Hu, Jian Gu, Sai-Juan Chen, Zhu Chen
Genome Res. 2000 Oct; 10(10): 1546–1560. doi: 10.1101/gr.140200
PMCID:
PMC310934
AbstractArticlePDF–1.3M
20.
The DNA sequence of the human X chromosome
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature. Author manuscript; available in PMC 2009 Apr 5.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286
AbstractArticlePDF–1.0M

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