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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
2002 1
2003 1
2004 2
2005 2
2006 1
2010 1
2011 3
2012 1
2014 1
2015 1
2016 1
2018 3
2019 3
2020 2
2021 4
2022 2
2023 2
2024 0

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PubMed for id: 79912

28 results

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Page 1
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Sainio MT, et al. J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515627 Free PMC article.
The oxidoreductase PYROXD1 uses NAD(P)+ as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response.
Asanović I, Strandback E, Kroupova A, Pasajlic D, Meinhart A, Tsung-Pin P, Djokovic N, Anrather D, Schuetz T, Suskiewicz MJ, Sillamaa S, Köcher T, Beveridge R, Nikolic K, Schleiffer A, Jinek M, Hartl M, Clausen T, Penninger J, Macheroux P, Weitzer S, Martinez J. Asanović I, et al. Mol Cell. 2021 Jun 17;81(12):2520-2532.e16. doi: 10.1016/j.molcel.2021.04.007. Epub 2021 Apr 29. Mol Cell. 2021. PMID: 33930333 Free article.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Saha M, et al. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. Physiol Genomics. 2018. PMID: 30345904 Free PMC article.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. O'Grady GL, et al. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745833 Free PMC article.
Lineage-specific gene duplication and loss in human and great ape evolution.
Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. Fortna A, et al. PLoS Biol. 2004 Jul;2(7):E207. doi: 10.1371/journal.pbio.0020207. Epub 2004 Jul 13. PLoS Biol. 2004. PMID: 15252450 Free PMC article.
CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system.
Lim SH, Snider J, Birimberg-Schwartz L, Ip W, Serralha JC, Botelho HM, Lopes-Pacheco M, Pinto MC, Moutaoufik MT, Zilocchi M, Laselva O, Esmaeili M, Kotlyar M, Lyakisheva A, Tang P, López Vázquez L, Akula I, Aboualizadeh F, Wong V, Grozavu I, Opacak-Bernardi T, Yao Z, Mendoza M, Babu M, Jurisica I, Gonska T, Bear CE, Amaral MD, Stagljar I. Lim SH, et al. Mol Syst Biol. 2022 Feb;18(2):e10629. doi: 10.15252/msb.202110629. Mol Syst Biol. 2022. PMID: 35156780 Free PMC article.
28 results