Associated Papers
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.
Wen Y et al.
Molecular Genetics & Genomic Medicine, 2022
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT et al.
Molecular Genetics and Metabolism, 2019
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Theunissen TEJ et al.
Frontiers in Molecular Neuroscience, 2017
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development.
Carilla-Latorre S et al.
Molecular Biology of the Cell, 2013
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
Saada A et al.
Journal of Inherited Metabolic Disease, 2012
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M et al.
Journal of Medical Genetics, 2010
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