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Select item 113533741.

Key Genes FECH and ALAS2 under Acute High-Altitude Exposure: A Gene Expression and Network Analysis Based on Expression Profile Data

Yifan Zhao, Lingling Zhu, Dawei Shi, Jiayue Gao, Ming Fan

Genes (Basel) 2024 Aug; 15(8): 1075. Published online 2024 Aug 14. doi: 10.3390/genes15081075

PMCID:: PMC11353374

Abstract Article PDF–5.0M

Select item 91519222.

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae

Sci Rep. 2022; 12: 9024. Published online 2022 May 30. doi: 10.1038/s41598-022-12940-9

PMCID:: PMC9151922

Abstract Article PDF–2.7M

Select item 86641293.

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context

Marcel Morgenstern, Christian D. Peikert, Philipp Lübbert, Ida Suppanz, Cinzia Klemm, Oliver Alka, Conny Steiert, Nataliia Naumenko, Alexander Schendzielorz, Laura Melchionda, Wignand W.D. Mühlhäuser, Bettina Knapp, Jakob D. Busch, Sebastian B. Stiller, Stefan Dannenmaier, Caroline Lindau, Mariya Licheva, Christopher Eickhorst, Riccardo Galbusera, Ralf M. Zerbes, Michael T. Ryan, Claudine Kraft, Vera Kozjak-Pavlovic, Friedel Drepper, Sven Dennerlein, Silke Oeljeklaus, Nikolaus Pfanner, Nils Wiedemann, Bettina Warscheid

Cell Metab. 2021 Dec 7; 33(12): 2464–2483.e18. doi: 10.1016/j.cmet.2021.11.001

PMCID:: PMC8664129

Abstract Article

Select item 82529514.

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

Sarah Ducamp, Sara Luscieti, Xènia Ferrer-Cortès, Gaël Nicolas, Hana Manceau, Katell Peoc’h, Yvette Y. Yien, Caroline Kannengiesser, Laurent Gouya, Herve Puy, Mayka Sanchez

Haematologica. 2021 Jul 1; 106(7): 2030–2033. Published online 2021 Feb 18. doi: 10.3324/haematol.2020.272450

PMCID:: PMC8252951

Article PDF–1.8M

Select item 79104595.

Combinatorial CRISPR screen identifies fitness effects of gene paralogues

Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams

Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9

PMCID:: PMC7910459

Abstract Article PDF–3.3M

Select item 72726536.

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release

Henry J. Bailey, Gustavo A. Bezerra, Jason R. Marcero, Siladitya Padhi, William R. Foster, Elzbieta Rembeza, Arijit Roy, David F. Bishop, Robert J. Desnick, Gopalakrishnan Bulusu, Harry A. Dailey, Jr, Wyatt W. Yue

Nat Commun. 2020; 11: 2813. Published online 2020 Jun 4. doi: 10.1038/s41467-020-16586-x

PMCID:: PMC7272653

Abstract Article PDF–3.0M

Select item 71699837.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 63449998.

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop

Mol Med. 2019; 25: 4. Published online 2019 Jan 24. doi: 10.1186/s10020-019-0070-9

PMCID:: PMC6344999

Abstract Article PDF–1016K

Select item 60739559.

Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase

Insung Na, Dominique Catena, Min J. Kong, Gloria C. Ferreira, Vladimir N. Uversky

Int J Mol Sci. 2018 Jul; 19(7): 1899. Published online 2018 Jun 28. doi: 10.3390/ijms19071899

PMCID:: PMC6073955

Abstract Article PDF–14M

Select item 531479810.

Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation

Yingchi Zhang, Jingliao Zhang, Wenbin An, Yang Wan, Shihui Ma, Jie Yin, Xichuan Li, Jie Gao, Weiping Yuan, Ye Guo, James Douglas Engel, Lihong Shi, Tao Cheng, Xiaofan Zhu

Nucleic Acids Res. 2017 Jan 25; 45(2): 657–671. Published online 2016 Oct 7. doi: 10.1093/nar/gkw901

PMCID:: PMC5314798

Abstract Article PDF–9.4M

Select item 457333511.

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt Conformational Equilibrium and Enhance Product Release

Erica J. Fratz, Jerome Clayton, Gregory A. Hunter, Sarah Ducamp, Leonid Breydo, Vladimir N. Uversky, Jean-Charles Deybach, Laurent Gouya, Hervé Puy, Gloria C. Ferreira

Biochemistry. Author manuscript; available in PMC 2015 Sep 17.

Published in final edited form as: Biochemistry. 2015 Sep 15; 54(36): 5617–5631. Published online 2015 Sep 2. doi: 10.1021/acs.biochem.5b00407

PMCID:: PMC4573335

Abstract Article PDF–1.5M

Select item 444121512.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 439647613.

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

Vijay G. Sankaran, Jacob C. Ulirsch, Vassili Tchaikovskii, Leif S. Ludwig, Aoi Wakabayashi, Senkottuvelan Kadirvel, R. Coleman Lindsley, Rafael Bejar, Jiahai Shi, Scott B. Lovitch, David F. Bishop, David P. Steensma

J Clin Invest. 2015 Apr 1; 125(4): 1665–1669. Published online 2015 Feb 23. doi: 10.1172/JCI78619

Correction in:: J Clin Invest. 2020 Jan 2; 130(1): 552.

PMCID:: PMC4396476

Abstract Article PDF–1.2M

Select item 426658814.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 394370315.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations

Dean R. Campagna, Charlotte I. de Bie, Klaus Schmitz-Abe, Marion Sweeney, Anoop K. Sendamarai, Paul J. Schmidt, Matthew M. Heeney, Helger G. Yntema, Caroline Kannengiesser, Bernard Grandchamp, Charlotte M. Niemeyer, Nine V.A.M. Knoers, Sonia Swart, Gordon Marron, Richard van Wijk, Reinier A. Raymakers, Alison May, Kyriacos Markianos, Sylvia S. Bottomley, Dorine W. Swinkels, Mark D. Fleming

Am J Hematol. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Am J Hematol. 2014 Mar; 89(3): 315–319. Published online 2013 Nov 20. doi: 10.1002/ajh.23616

Correction in:: volume 89 on page 670

PMCID:: PMC3943703

Abstract Article PDF–187K

Select item 391295416.

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara

Haematologica. 2014 Feb; 99(2): 252–261. doi: 10.3324/haematol.2013.085449

PMCID:: PMC3912954

Abstract Article PDF–954K

Select item 364609417.

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Manisha Balwani, Dana Doheny, David F Bishop, Irina Nazarenko, Makiko Yasuda, Harry A Dailey, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Lawrence Liu, Robert J Desnick

Mol Med. 2013; 19(1): 26–35. Published online 2013 Jan 28. doi: 10.2119/molmed.2012.00340

PMCID:: PMC3646094

Abstract Article PDF–4.6M

Select item 359293118.

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

David F Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J Desnick

Mol Med. 2013; 19(1): 18–25. Published online 2013 Jan 16. doi: 10.2119/molmed.2013.00003

PMCID:: PMC3592931

Abstract Article PDF–4.0M

Select item 343653919.

X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the β-Subunit of Succinyl-CoA Synthetase (SUCLA2)

David F. Bishop, Vassili Tchaikovskii, A. Victor Hoffbrand, Marie E. Fraser, Steven Margolis

J Biol Chem. 2012 Aug 17; 287(34): 28943–28955. Published online 2012 Jun 27. doi: 10.1074/jbc.M111.306423

PMCID:: PMC3436539

Abstract Article PDF–1.7M

Select item 317805920.

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

Abstract Article PDF–1.0M

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