Associated Papers
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Bilgin H et al.
Molecular Genetics and Metabolism Reports, 2024
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE et al.
Brain : a Journal of Neurology, 2022
Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.
Kahlhöfer F et al.
Life (basel, Switzerland), 2021
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z et al.
Biochimica Et Biophysica Acta, 2012
Mitochondrial Oxidative Stress due to Complex I Dysfunction Promotes Fibroblast Activation and Melanoma Cell Invasiveness.
Taddei ML et al.
Journal of Signal Transduction, 2012
Superoxide production is inversely related to complex I activity in inherited complex I deficiency.
Verkaart S et al.
Biochimica Et Biophysica Acta, 2007
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
Petruzzella V et al.
Febs Letters, 2005
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