Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
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
NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.
Shamriz O et al.
Frontiers in Immunology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE et al.
Brain : a Journal of Neurology, 2022
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G et al.
Nature Communications, 2021
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
Assereto S et al.
Clinical Genetics, 2014
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
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
Leshinsky-Silver E et al.
Molecular Genetics and Metabolism, 2010
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E et al.
Molecular Genetics and Metabolism, 2009
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