Associated Papers
NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.
Shamriz O et al.
Frontiers in Immunology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.
Morcillo P et al.
Cell Death & Disease, 2024
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.
Hanaford A et al.
Orphanet Journal of Rare Diseases, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Exploring mTOR inhibition as treatment for mitochondrial disease.
Sage-Schwaede A et al.
Annals of Clinical and Translational Neurology, 2019
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont RE et al.
American Journal of Medical Genetics. Part A, 2017
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
Assereto S et al.
Clinical Genetics, 2014
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
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E et al.
Molecular Genetics and Metabolism, 2009
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