Literature DB >> 24357304

Medicine. A common pathway for a rare disease?

Scott B Vafai1, Vamsi K Mootha.   

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Year:  2013        PMID： 24357304     DOI： 10.1126/science.1248449

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  14 in total

Review 1.  Optineurin: The autophagy connection.

Authors:  Hongyu Ying; Beatrice Y J T Yue
Journal:  Exp Eye Res       Date:  2015-07-02       Impact factor: 3.467

2.  Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts.

Authors:  Damian Hertig; Andrea Felser; Gaëlle Diserens; Sandra Kurth; Peter Vermathen; Jean-Marc Nuoffer
Journal:  Metabolomics       Date:  2019-02-28       Impact factor: 4.290

3.  Oxygen in mitochondrial disease: can there be too much of a good thing?

Authors:  Vamsi K Mootha; Patrick F Chinnery
Journal:  J Inherit Metab Dis       Date:  2018-06-08       Impact factor: 4.982

4.  Nuclear-mitochondrial proteins: too much to process?

Authors:  Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2015-06       Impact factor: 13.501

5.  Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.

Authors:  Neeharika Nemani; Zhiwei Dong; Cassidy C Daw; Travis R Madaris; Karthik Ramachandran; Benjamin T Enslow; Cherubina S Rubannelsonkumar; Santhanam Shanmughapriya; Varshini Mallireddigari; Soumya Maity; Pragya SinghMalla; Kalimuthusamy Natarajanseenivasan; Robert Hooper; Christopher E Shannon; Warren G Tourtellotte; Brij B Singh; W Brian Reeves; Kumar Sharma; Luke Norton; Subramanya Srikantan; Jonathan Soboloff; Muniswamy Madesh
Journal:  Sci Signal       Date:  2020-04-21       Impact factor: 8.192

6.  Induction of autophagy in rats upon overexpression of wild-type and mutant optineurin gene.

Authors:  Hongyu Ying; Sanja Turturro; Tara Nguyen; Xiang Shen; Ruth Zelkha; Elaine C Johnson; John C Morrison; Beatrice Y J T Yue
Journal:  BMC Cell Biol       Date:  2015-05-06       Impact factor: 4.241

7.  In silico investigation of potential mTOR inhibitors from traditional Chinese medicine for treatment of Leigh syndrome.

Authors:  Kuan-Chung Chen; Wen-Yuan Lee; Hsin-Yi Chen; Calvin Yu-Chian Chen
Journal:  Biomed Res Int       Date:  2014-06-23       Impact factor: 3.411

8.  Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration.

Authors:  Xinde Zheng; Leah Boyer; Mingji Jin; Yongsung Kim; Weiwei Fan; Cedric Bardy; Travis Berggren; Ronald M Evans; Fred H Gage; Tony Hunter
Journal:  Elife       Date:  2016-03-23       Impact factor: 8.140

9.  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Authors:  Ian J Wilson; Phillipa J Carling; Charlotte L Alston; Vasileios I Floros; Angela Pyle; Gavin Hudson; Suzanne C E H Sallevelt; Costanza Lamperti; Valerio Carelli; Laurence A Bindoff; David C Samuels; Passorn Wonnapinij; Massimo Zeviani; Robert W Taylor; Hubert J M Smeets; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2016-01-05       Impact factor: 6.150

Review 10.  The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.

Authors:  James B Stewart; Patrick F Chinnery
Journal:  Nat Rev Genet       Date:  2015-09       Impact factor: 53.242
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