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
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
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
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology.
Valsecchi F et al.
Mitochondrion, 2013
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
Breuer ME et al.
Iubmb Life, 2013
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
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
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E et al.
Molecular Genetics and Metabolism, 2009
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Papa S et al.
Biochimica Et Biophysica Acta, 2009
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
Anderson SL et al.
Journal of Inherited Metabolic Disease, 2008
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Panelli D et al.
Biochimie, 2008
Superoxide production is inversely related to complex I activity in inherited complex I deficiency.
Verkaart S et al.
Biochimica Et Biophysica Acta, 2007
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
Iuso A et al.
The Journal of Biological Chemistry, 2006
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
Petruzzella V et al.
Febs Letters, 2005
Respiratory complex I in brain development and genetic disease.
Papa S et al.
Neurochemical Research, 2004
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
Scacco S et al.
The Journal of Biological Chemistry, 2003
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Budde SM et al.
Journal of Inherited Metabolic Disease, 2003
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
Petruzzella V et al.
Human Molecular Genetics, 2001
Mutations in structural genes of complex I associated with neurological diseases.
Scacco S et al.
The Italian Journal of Biochemistry, 0