REVIEW
Published on 20 Jan 2016
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies
doi 10.3389/fgene.2015.00359
- 20,373 views
- 104 citations
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Impact of nuclear genetic variants on mitochondrial pathophysiology
Impact of nuclear genetic variants on mitochondrial pathophysiology
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Articles
CASE REPORT
Published on 19 Oct 2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
doi 10.3389/fgene.2015.00311
- 6,010 views
- 44 citations
ORIGINAL RESEARCH
Published on 11 Jun 2015
Caenorhabditis elegans expressing the Saccharomyces cerevisiae NADH alternative dehydrogenase Ndi1p, as a tool to identify new genes involved in complex I related diseases
doi 10.3389/fgene.2015.00206
- 5,086 views
- 7 citations
CLINICAL CASE STUDY
Published on 05 Jun 2015
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA
doi 10.3389/fgene.2015.00199
- 6,188 views
- 18 citations
ORIGINAL RESEARCH
Published on 19 May 2015
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
doi 10.3389/fgene.2015.00185
- 10,306 views
- 67 citations
ORIGINAL RESEARCH
Published on 23 Apr 2015
Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model
doi 10.3389/fgene.2015.00159
- 3,071 views
- 3 citations
ORIGINAL RESEARCH
Published on 13 Apr 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
doi 10.3389/fgene.2015.00123
- 15,759 views
- 91 citations
REVIEW
Published on 09 Apr 2015
Nuclear gene mutations as the cause of mitochondrial complex III deficiency
doi 10.3389/fgene.2015.00134
- 14,617 views
- 132 citations
ORIGINAL RESEARCH
Published on 09 Apr 2015
Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms
doi 10.3389/fgene.2015.00135
- 5,735 views
- 15 citations
CLINICAL CASE STUDY
Published on 23 Mar 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
doi 10.3389/fgene.2015.00102
- 7,115 views
- 20 citations
PERSPECTIVE
Published on 23 Mar 2015
The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof
doi 10.3389/fgene.2015.00113
- 4,181 views
- 4 citations
REVIEW
Published on 17 Mar 2015
DNA polymerase [gamma] and disease: what we have learned from yeast
doi 10.3389/fgene.2015.00106
- 8,670 views
- 24 citations
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore