Literature DB >> 27392079

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodi D Metodiev, Kyle Thompson, Charlotte L Alston, Andrew A M Morris, Langping He, Zarah Assouline, Marlène Rio, Nadia Bahi-Buisson, Angela Pyle, Helen Griffin, Stefan Siira, Aleksandra Filipovska, Arnold Munnich, Patrick F Chinnery, Robert McFarland, Agnès Rötig, Robert W Taylor.   

Abstract

Entities:  

Year:  2016        PMID： 27392079      PMCID： PMC5005466          DOI： 10.1016/j.ajhg.2016.06.013

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.

Authors:  Cristina Cosentino; Sanna Toivonen; Esteban Diaz Villamil; Mohamed Atta; Jean-Luc Ravanat; Stéphane Demine; Andrea Alex Schiavo; Nathalie Pachera; Jean-Philippe Deglasse; Jean-Christophe Jonas; Diego Balboa; Timo Otonkoski; Ewan R Pearson; Piero Marchetti; Décio L Eizirik; Miriam Cnop; Mariana Igoillo-Esteve
Journal:  Nucleic Acids Res       Date:  2018-11-02       Impact factor: 16.971

Review 2.  NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

Authors:  Ana Fernandez-Marmiesse; Sofia Gouveia; Maria L Couce
Journal:  Curr Med Chem       Date:  2018-01-30       Impact factor: 4.530

Review 3.  Factors That Shape Eukaryotic tRNAomes:  Processing, Modification and Anticodon-Codon Use.

Authors:  Richard J Maraia; Aneeshkumar G Arimbasseri
Journal:  Biomolecules       Date:  2017-03-08

4.  Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos.

Authors:  Auke B C Otten; Rick Kamps; Patrick Lindsey; Mike Gerards; Hélène Pendeville-Samain; Marc Muller; Florence H J van Tienen; Hubert J M Smeets
Journal:  Front Cell Dev Biol       Date:  2020-06-12

Review 5.  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

6.  m1A Regulated Genes Modulate PI3K/AKT/mTOR and ErbB Pathways in Gastrointestinal Cancer.

Authors:  Yueshui Zhao; Qijie Zhao; Parham Jabbarzadeh Kaboli; Jing Shen; Mingxing Li; Xu Wu; Jianhua Yin; Hanyu Zhang; Yuanlin Wu; Ling Lin; Lingling Zhang; Lin Wan; Qinglian Wen; Xiang Li; Chi Hin Cho; Tao Yi; Jing Li; Zhangang Xiao
Journal:  Transl Oncol       Date:  2019-07-25       Impact factor: 4.243

7.  Reduced uremic metabolites are prominent feature of sarcopenia, distinct from antioxidative markers for frailty.

Authors:  Masahiro Kameda; Takayuki Teruya; Mitsuhiro Yanagida; Hiroshi Kondoh
Journal:  Aging (Albany NY)       Date:  2021-09-07       Impact factor: 5.682
  7 in total

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