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Items: 1 to 20 of 45

1.
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Genes (Basel) 2023 Apr; 14(4): 952. Published online 2023 Apr 21. doi: 10.3390/genes14040952
PMCID:
PMC10137360
ArticlePDF–5.4M
2.
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Silvia Masnada, Roberto Previtali, Paola Erba, Elena Beretta, Anna Camporesi, Luisa Chiapparini, Chiara Doneda, Maria Iascone, Marco U. A. Sartorio, Luigina Spaccini, Pierangelo Veggiotti, Maurizio Osio, Davide Tonduti, Isabella Moroni
Neurol Sci. 2023 Apr 12 : 1–7. doi: 10.1007/s10072-023-06790-0 [Epub ahead of print]
PMCID:
PMC10096094
AbstractArticlePDF–815K
3.
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute, Priya D. Shanmugarajah, Marios Hadjivassiliou, Jenny Higgs, Miodrag Vojcic, Iain Horrocks, Yann Nadjar, Valerie Touitou, Guy Lenaers, Roy Poh, James Acheson, Anthony G. Robson, F. Lucy Raymond, Mary M. Reilly, Patrick Yu-Wai-Man, Anthony T. Moore, Andrew R. Webster, Gavin Arno, for the Genomics England Research Consortium
Invest Ophthalmol Vis Sci. 2021 May; 62(6): 2. Published online 2021 May 3. doi: 10.1167/iovs.62.6.2
PMCID:
PMC8107637
ArticlePDF–3.0M
4.
In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation
Lourdes Cruz-Garcia, Grainne O’Brien, Botond Sipos, Simon Mayes, Aleš Tichý, Igor Sirák, Marie Davídková, Markéta Marková, Daniel J. Turner, Christophe Badie
Int J Mol Sci. 2020 Nov; 21(21): 7851. Published online 2020 Oct 23. doi: 10.3390/ijms21217851
PMCID:
PMC7660203
ArticlePDF–2.2M
5.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin
Am J Hum Genet. 2017 Oct 5; 101(4): 630–637. Published online 2017 Sep 28. doi: 10.1016/j.ajhg.2017.09.007
PMCID:
PMC5630197
ArticlePDF–1.4M
6.
Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues.
S B Solish, J Picado-Leonard, Y Morel, R W Kuhn, T K Mohandas, I Hanukoglu, W L Miller
Proc Natl Acad Sci U S A. 1988 Oct; 85(19): 7104–7108. doi: 10.1073/pnas.85.19.7104
PMCID:
PMC282132
SummaryPage BrowsePDF–1.0M
7.
Cloning and sequence of the human adrenodoxin reductase gene.
D Lin, Y F Shi, W L Miller
Proc Natl Acad Sci U S A. 1990 Nov; 87(21): 8516–8520. doi: 10.1073/pnas.87.21.8516
PMCID:
PMC54987
SummaryPage BrowsePDF–1.3M
8.
Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding
Natalie Jay, Sean R. Duffy, D. Fernando Estrada
Biochemistry. Author manuscript; available in PMC 2022 Mar 31.
Published in final edited form as: Biochemistry. 2022 Jan 18; 61(2): 57–66. Published online 2022 Jan 3. doi: 10.1021/acs.biochem.1c00770
PMCID:
PMC8970626
ArticlePDF–1.6M
9.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
Jesse Slone, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, Mays Antonine El-Dairi, Dmitry Tchapyjnikov, Laura A Gonzalez-Krellwitz, Elizabeth A. Sellars, Allyn McConkie-Rosell, Laura G. Reinholdt, Taosheng Huang
J Hum Genet. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: J Hum Genet. 2018 Dec; 63(12): 1211–1222. Published online 2018 Sep 25. doi: 10.1038/s10038-018-0515-y
PMCID:
PMC6451867
ArticlePDF–3.6M
10.
Isatin‐induced increase in the affinity of human ferrochelatase and adrenodoxin reductase interaction
Pavel Ershov, Yuri Mezentsev, Andrey Gilep, Sergey Usanov, Olga Buneeva, Alexei Medvedev, Alexis Ivanov
Protein Sci. 2017 Dec; 26(12): 2458–2462. Published online 2017 Oct 9. doi: 10.1002/pro.3300
PMCID:
PMC5699483
ArticlePDF–194K
11.
FDXR regulates TP73 tumor suppressor via IRP2 to modulate aging and tumor suppression
Jin Zhang, Xiangmudong Kong, Yanhong Zhang, Wenqiang Sun, Jian Wang, Mingyi Chen, Xinbin Chen
J Pathol. Author manuscript; available in PMC 2020 Dec 18.
Published in final edited form as: J Pathol. 2020 Jul; 251(3): 284–296. Published online 2020 May 18. doi: 10.1002/path.5451
PMCID:
PMC7748393
ArticlePDF–1.4M
12.
Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis
Yanbo Shi, Manik Ghosh, Gennadiy Kovtunovych, Daniel R. Crooks, Tracey A. Rouault
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jan 16.
Published in final edited form as: Biochim Biophys Acta. 2012 Feb; 1823(2): 484–492. Published online 2011 Nov 10. doi: 10.1016/j.bbamcr.2011.11.002
PMCID:
PMC3546607
ArticlePDF–2.5M
13.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Yanyan Peng, Deepali N Shinde, C Alexander Valencia, Jun-Song Mo, Jill Rosenfeld, Megan Truitt Cho, Adam Chamberlin, Zhuo Li, Jie Liu, Baoheng Gui, Rachel Brockhage, Alice Basinger, Brenda Alvarez-Leon, Peter Heydemann, Pilar L Magoulas, Andrea M Lewis, Fernando Scaglia, Solange Gril, Shuk Ching Chong, Matthew Bower, Kristin G Monaghan, Rebecca Willaert, Maria-Renee Plona, Rich Dineen, Francisca Milan, George Hoganson, Zoe Powis, Katherine L Helbig, Jennifer Keller-Ramey, Belinda Harris, Laura C Anderson, Torrian Green, Stacey J Sukoff Rizzo, Julie Kaylor, Jiani Chen, Min-Xin Guan, Elizabeth Sellars, Steven P Sparagana, James B Gibson, Laura G Reinholdt, Sha Tang, Taosheng Huang
Hum Mol Genet. 2017 Dec 15; 26(24): 4937–4950. Published online 2017 Oct 5. doi: 10.1093/hmg/ddx377
Correction in:
Hum Mol Genet. 2018 Jun 15; 27(12): 2224.
PMCID:
PMC5886230
ArticlePDF–1.6M
14.
Correlation of Fragile Histidine Triad (Fhit) Protein Structural Features with Effector Interactions and Biological Functions
Flavia Pichiorri, Hiroshi Okumura, Tatsuya Nakamura, Preston N. Garrison, Pierluigi Gasparini, Sung-Suk Suh, Teresa Druck, Kelly A. McCorkell, Larry D. Barnes, Carlo M. Croce, Kay Huebner
J Biol Chem. 2009 Jan 9; 284(2): 1040–1049. doi: 10.1074/jbc.M806638200
PMCID:
PMC2613607
ArticlePDF–650K
15.
Role of SUMO activating enzyme in cancer stem cell maintenance and self-renewal
Li Du, Yi-Jia Li, Marwan Fakih, Rebecca L. Wiatrek, Marjun Duldulao, Zhenbin Chen, Peiguo Chu, Julio Garcia-Aguilar, Yuan Chen
Nat Commun. 2016; 7: 12326. Published online 2016 Jul 28. doi: 10.1038/ncomms12326
PMCID:
PMC4974481
ArticlePDF–1.5M
16.
CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway
Guojie Xu, Lei Zhao, Qingling Hua, Lanqing Wang, Hongli Liu, Zhenyu Lin, Min Jin, Jing Wang, Pengfei Zhou, Kunyu Yang, Gang Wu, Dandan Yu, Dejun Zhang, Tao Zhang
Cell Death Dis. 2023 Feb; 14(2): 167. Published online 2023 Feb 27. doi: 10.1038/s41419-023-05644-z
PMCID:
PMC9971195
ArticlePDF–15M
17.
The deubiquitylating enzyme UCHL3 regulates Ku80 retention at sites of DNA damage
Ryotaro Nishi, Paul W. G. Wijnhoven, Yusuke Kimura, Misaki Matsui, Rebecca Konietzny, Qian Wu, Keisuke Nakamura, Tom L. Blundell, Benedikt M. Kessler
Sci Rep. 2018; 8: 17891. Published online 2018 Dec 17. doi: 10.1038/s41598-018-36235-0
PMCID:
PMC6297141
ArticlePDF–2.6M
18.
Targeting RICTOR sensitizes SMAD4-negative colon cancer to irinotecan
Chen Khuan Wong, Arthur William Lambert, Sait Ozturk, Panagiotis Papageorgis, Delia Lopez, Ning Shen, Zaina Sen, Hamid Mostafavi Abdolmaleky, Balázs Győrffy, Hui Feng, Sam Thiagalingam
Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Mol Cancer Res. 2020 Mar; 18(3): 414–423. Published online 2020 Jan 13. doi: 10.1158/1541-7786.MCR-19-0525
PMCID:
PMC7115128
ArticlePDF–1.6M
19.
A role for mitochondrial translation in promotion of viability in K-Ras mutant cells
Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge
Cell Rep. Author manuscript; available in PMC 2017 Aug 11.
Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061
PMCID:
PMC5553568
ArticlePDF–1.8M
20.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
ArticlePDF–1.9M

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