Literature DB >> 22435372

Monogenic mitochondrial disorders.

Werner J H Koopman1, Peter H G M Willems, Jan A M Smeitink.   

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Year:  2012        PMID： 22435372     DOI： 10.1056/NEJMra1012478

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  173 in total

1.  De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Authors:  Debdeep Dutta; Lauren C Briere; Oguz Kanca; Paul C Marcogliese; Melissa A Walker; Frances A High; Adeline Vanderver; Joel Krier; Nikkola Carmichael; Christine Callahan; Ryan J Taft; Cas Simons; Guy Helman; Undiagnosed Diseases Network; Michael F Wangler; Shinya Yamamoto; David A Sweetser; Hugo J Bellen
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150

2.  Mitochondrial dynamics in cardiovascular disease: fission and fusion foretell form and function.

Authors:  Willard W Sharp; Stephen L Archer
Journal:  J Mol Med (Berl)       Date:  2015-02-12       Impact factor: 4.599

3.  Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.

Authors:  Kunqian Ji; Jinfan Zheng; Baoying Sun; Fuchen Liu; Jingli Shan; Duoling Li; Yue-Bei Luo; Yuying Zhao; Chuanzhu Yan
Journal:  Neuromolecular Med       Date:  2013-09-24       Impact factor: 3.843

Review 4.  Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.

Authors:  Douglas C Wallace; Dimitra Chalkia
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-11-01       Impact factor: 10.005

5.  Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

Authors:  Min Peng; Julian Ostrovsky; Young Joon Kwon; Erzsebet Polyak; Joseph Licata; Mai Tsukikawa; Eric Marty; Jeffrey Thomas; Carolyn A Felix; Rui Xiao; Zhe Zhang; David L Gasser; Yair Argon; Marni J Falk
Journal:  Hum Mol Genet       Date:  2015-06-03       Impact factor: 6.150

Review 6.  Mitophagy in cardiovascular homeostasis.

Authors:  Ruohan Zhang; Judith Krigman; Hongke Luo; Serra Ozgen; Mingchong Yang; Nuo Sun
Journal:  Mech Ageing Dev       Date:  2020-04-11       Impact factor: 5.432

7.  Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.

Authors:  Joeva J Barrow; Eduardo Balsa; Francisco Verdeguer; Clint D J Tavares; Meghan S Soustek; Louis R Hollingsworth; Mark Jedrychowski; Rutger Vogel; Joao A Paulo; Jan Smeitink; Steve P Gygi; John Doench; David E Root; Pere Puigserver
Journal:  Mol Cell       Date:  2016-09-22       Impact factor: 17.970

Review 8.  Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Authors:  Kathryn M Camp; Danuta Krotoski; Melissa A Parisi; Katrina A Gwinn; Bruce H Cohen; Christine S Cox; Gregory M Enns; Marni J Falk; Amy C Goldstein; Rashmi Gopal-Srivastava; Gráinne S Gorman; Stephen P Hersh; Michio Hirano; Freddie Ann Hoffman; Amel Karaa; Erin L MacLeod; Robert McFarland; Charles Mohan; Andrew E Mulberg; Joanne C Odenkirchen; Sumit Parikh; Patricia J Rutherford; Shawne K Suggs-Anderson; W H Wilson Tang; Jerry Vockley; Lynne A Wolfe; Steven Yannicelli; Philip E Yeske; Paul M Coates
Journal:  Mol Genet Metab       Date:  2016-09-20       Impact factor: 4.797

9.  Attenuation of Endoplasmic Reticulum Stress, Impaired Calcium Homeostasis, and Altered Bioenergetic Functions in MPP+-Exposed SH-SY5Y Cells Pretreated with Rutin.

Authors:  Adaze Bijou Enogieru; William Lloyd Haylett; Hayley Christy Miller; Francois Hendrikus van der Westhuizen; Donavon Charles Hiss; Okobi Eko Ekpo
Journal:  Neurotox Res       Date:  2019-05-04       Impact factor: 3.911

Review 10.  Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.

Authors:  Luisa Iommarini; Susana Peralta; Alessandra Torraco; Francisca Diaz
Journal:  Mitochondrion       Date:  2015-01-29       Impact factor: 4.160
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