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References from A novel NDUFS1 missense variant associated with optic atrophy and mitochondrial dysfunction. Local targets link to admitted publications; unresolved targets remain external evidence.
Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management
10.1016/s1474-4422(22)00174-0 · 2023 · External reference
Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration
10.1038/s41467-025-57135-8 · 2025 · External reference
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes
2024 · External reference
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion
10.1073/pnas.2207471120 · 2023 · External reference
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome
10.1038/s41467-024-50502-x · 2024 · External reference
Leigh syndrome: one disorder, more than 75 monogenic causes
10.1002/ana.24551 · 2016 · External reference
Accessory subunits are integral for assembly and function of human mitochondrial complex I
10.1038/nature19754 · 2016 · External reference
Mitochondrial complex I deficiency of nuclear origin I. Structural genes
10.1016/j.ymgme.2011.11.188 · 2012 · External reference
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
10.1074/jbc.r117.809194 · 2019 · External reference
Mutations in NDUFS1 cause metabolic reprogramming and disruption of the electron transfer
10.3390/cells8101149 · 2019 · External reference
Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis
10.1038/s12276-022-00800-5 · 2022 · External reference
Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation
10.1038/s41419-022-04836-3 · 2022 · External reference
Pathologically high intraocular pressure induces mitochondrial dysfunction through Drp1 and leads to retinal ganglion cell PANoptosis in glaucoma
10.1016/j.redox.2023.102687 · 2023 · External reference
Complex I assembly into supercomplexes determines differential mitochondrial ROS production in neurons and astrocytes
10.1073/pnas.1613701113 · 2016 · External reference
A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein
10.1038/s41420-022-01160-9 · 2022 · External reference
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
10.1016/j.mito.2015.01.003 · 2015 · External reference
CRISPR-Cas9 screen identifies oxidative phosphorylation as essential for cancer cell survival at low extracellular pH
10.1016/j.celrep.2022.110493 · 2022 · External reference
Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3(T31A) and ARL3(T31A/C118F) mutations
10.1096/fj.202301906r · 2024 · External reference
Multi-mtDNA variants may be a factor contributing to mitochondrial function variety in the skin-derived fibroblasts of Leber’s hereditary optic neuropathy patients
10.3389/fnmol.2022.920221 · 2022 · External reference
The assembly, regulation and function of the mitochondrial respiratory chain
10.1038/s41580-021-00415-0 · 2022 · External reference
Bird eye view of protein subcellular localization prediction
2020 · External reference
Cellular strategies of protein quality control
10.1101/cshperspect.a004374 · 2011 · External reference
Protein quality control and elimination of protein waste: the role of the ubiquitin-proteasome system
10.1016/j.bbamcr.2013.06.031 · 2014 · External reference
Clinician-driven reanalysis of exome sequencing data from patients with inherited retinal diseases
10.1001/jamanetworkopen.2024.14198 · 2024 · External reference
An update on gene therapy for inherited retinal dystrophy: experience in Leber congenital amaurosis clinical trials
10.3390/ijms22094534 · 2021 · External reference
Leber’s congenital amaurosis: current concepts of genotype-phenotype correlations
10.3390/genes12081261 · 2021 · External reference
Early onset inherited retinal diseases: characterizing clinical manifestations and common involved genes
2026 · External reference
Retinal ganglion cell repopulation for vision restoration in optic neuropathy: a roadmap from the RReSTORe Consortium
10.1186/s13024-023-00655-y · 2023 · External reference
Programmed axon death: a promising target for treating retinal and optic nerve disorders
10.1038/s41433-024-03025-0 · 2024 · External reference
Mitochondrial diseases: from molecular mechanisms to therapeutic advances
2025 · External reference
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum
10.1002/ana.26716 · 2023 · External reference
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
10.1093/brain/awae057 · 2024 · External reference
Down regulation of NDUFS1 is involved in the progression of parenteral-nutrition-associated liver disease by increasing oxidative stress
10.1016/j.jnutbio.2022.109221 · 2023 · External reference
High-resolution cryo-EM structures of respiratory complex I: mechanism, assembly, and disease
10.1126/sciadv.aax9484 · 2019 · External reference
Structure of inhibitor-bound mammalian complex I
10.1038/s41467-020-18950-3 · 2020 · External reference
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
10.1086/320603 · 2001 · External reference
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
10.1016/j.ymgme.2010.03.015 · 2010 · External reference
High-throughput discovery of novel developmental phenotypes
10.1038/nature19356 · 2016 · External reference
Enhanced mitochondrial biogenesis promotes neuroprotection in human pluripotent stem cell derived retinal ganglion cells
10.1038/s42003-023-04576-w · 2023 · External reference
Mitochondria in retinal ganglion cells: unraveling the metabolic nexus and oxidative stress
10.3390/ijms25168626 · 2024 · External reference
Mitochondrial dysfunction as a cause of optic neuropathies
10.1016/j.preteyeres.2003.10.003 · 2004 · External reference
Mitochondria as a central sensor for axonal degenerative stimuli
10.1016/j.tins.2012.04.001 · 2012 · External reference
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity
10.1093/hmg/ddr446 · 2012 · External reference
Mitochondrial complex I
10.1146/annurev-biochem-070511-103700 · 2013 · External reference
Accessory subunit NUYM (NDUFS4) is required for stability of the electron input module and activity of mitochondrial complex I
10.1016/j.bbabio.2016.11.010 · 2017 · External reference
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy
10.1016/j.cmet.2008.02.004 · 2008 · External reference
Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome
10.1073/pnas.1006214107 · 2010 · External reference
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
10.1007/s10545-012-9492-z · 2012 · External reference
Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme
10.1016/j.mito.2022.11.007 · 2023 · External reference
Genetic heterogeneity in Leigh syndrome: highlighting treatable and novel genetic causes
10.1111/cge.13713 · 2020 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
A case of mitochondrial complex I deficiency 5 caused by gene variation
2023 · External reference
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene
10.1001/archneur.62.4.659 · 2005 · External reference
Compound heterozygous variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complexideficiency
2021 · External reference
Progressive cavitating leukoencephalopathy: four cases and literatures review
2017 · External reference
Association of NDUFV1 and NDUFS1 gene variants with hereditary leukoencephalopathy in children
2019 · External reference
Clinical and genetic characteristics of children with Leigh syndrome
2017 · External reference
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
10.1093/brain/awq232 · 2010 · External reference
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I
10.1074/jbc.m513387200 · 2006 · External reference
