Associated Papers
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Sonsalla G et al.
Neuron, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE et al.
Brain : a Journal of Neurology, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
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
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G et al.
Nature Communications, 2021
Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.
Bris C et al.
Neurology. Genetics, 2017
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
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
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.
Valsecchi F et al.
Biochimica Et Biophysica Acta, 2012
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
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Voets AM et al.
Biochimica Et Biophysica Acta, 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
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E et al.
Molecular Genetics and Metabolism, 2009
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 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
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.
Distelmaier F et al.
Journal of Molecular Medicine (berlin, Germany), 2009
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
Anderson SL et al.
Journal of Inherited Metabolic Disease, 2008
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.
Visch HJ et al.
Biochimica Et Biophysica Acta, 2006
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
Koopman WJ et al.
American Journal of Physiology. Cell Physiology, 2005
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ et al.
The Journal of Biological Chemistry, 2004
Respiratory complex I in brain development and genetic disease.
Papa S et al.
Neurochemical Research, 2004
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Budde SM et al.
Journal of Inherited Metabolic Disease, 2003