Associated Papers
Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice.
Terburgh K et al.
Journal of Inherited Metabolic Disease, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.
Urzì C et al.
Journal of Inherited Metabolic Disease, 2025
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R et al.
Brain Communications, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.
Meyer C et al.
Journal of Inherited Metabolic Disease, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
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
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G et al.
Nature Communications, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont RE et al.
American Journal of Medical Genetics. Part A, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
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
Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.
Papa S et al.
Febs Letters, 2012
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
Anderson SL et al.
Journal of Inherited Metabolic Disease, 2008