Literature DB >> 29021354

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis.

Mark A Tarnopolsky1, Lauren Brady2, Martine Tetreault2.   

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Year:  2017        PMID： 29021354      PMCID： PMC5696640          DOI： 10.1212/WNL.0000000000004657

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

Review 1.  tRNA stabilization by modified nucleotides.

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Journal:  Biochemistry       Date:  2010-06-22       Impact factor: 3.162

Review 2.  Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases.

Authors:  Tsutomu Suzuki; Asuteka Nagao; Takeo Suzuki
Journal:  Annu Rev Genet       Date:  2011-09-06       Impact factor: 16.830

Review 3.  Posttranscriptional RNA Modifications: playing metabolic games in a cell's chemical Legoland.

Authors:  Mark Helm; Juan D Alfonzo
Journal:  Chem Biol       Date:  2013-12-05

4.  MITOMAP: a human mitochondrial genome database--2004 update.

Authors:  Marty C Brandon; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Shamkant B Navathe; Pierre Baldi; Douglas C Wallace
Journal:  Nucleic Acids Res       Date:  2005-01-01       Impact factor: 16.971

5.  TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Authors:  Christopher A Powell; Robert Kopajtich; Aaron R D'Souza; Joanna Rorbach; Laura S Kremer; Ralf A Husain; Cristina Dallabona; Claudia Donnini; Charlotte L Alston; Helen Griffin; Angela Pyle; Patrick F Chinnery; Tim M Strom; Thomas Meitinger; Richard J Rodenburg; Gudrun Schottmann; Markus Schuelke; Nadine Romain; Ronald G Haller; Ileana Ferrero; Tobias B Haack; Robert W Taylor; Holger Prokisch; Michal Minczuk
Journal:  Am J Hum Genet       Date:  2015-07-16       Impact factor: 11.025

6.  Conservation of structure and mechanism by Trm5 enzymes.

Authors:  Thomas Christian; Howard Gamper; Ya-Ming Hou
Journal:  RNA       Date:  2013-07-25       Impact factor: 4.942
  6 in total
  6 in total

Review 1.  Mitochondrial noncoding RNAs: new wine in an old bottle.

Authors:  Huixin Liang; Jiayu Liu; Shicheng Su; Qiyi Zhao
Journal:  RNA Biol       Date:  2021-06-10       Impact factor: 4.766

2.  Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles.

Authors:  Abdul Khalique; Sandy Mattijssen; Alexander F Haddad; Shereen Chaudhry; Richard J Maraia
Journal:  PLoS Genet       Date:  2020-04-23       Impact factor: 5.917

Review 3.  Mitochondrial DNA transcription and translation: clinical syndromes.

Authors:  Veronika Boczonadi; Giulia Ricci; Rita Horvath
Journal:  Essays Biochem       Date:  2018-07-20       Impact factor: 8.000

4.  Random forest-integrated analysis in AD and LATE brain transcriptome-wide data to identify disease-specific gene expression.

Authors:  Xinxing Wu; Chong Peng; Peter T Nelson; Qiang Cheng
Journal:  PLoS One       Date:  2021-09-07       Impact factor: 3.240

Review 5.  Two genomes, one cell: Mitochondrial-nuclear coordination via epigenetic pathways.

Authors:  Meike Wiese; Andrew J Bannister
Journal:  Mol Metab       Date:  2020-02-15       Impact factor: 7.422

6.  Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.

Authors:  Shuiyan Wu; Weixi Li; Zhenjiang Bai; Saihu Huang; Daoping Yang; Hongmei Chen; Ying Li; Ying Liu; Haitao Lv
Journal:  BMC Pediatr       Date:  2022-02-02       Impact factor: 2.125
  6 in total

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