ArticleNeurogenetics2011
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Article in Neurogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.Diagnostics (Basel, Switzerland) · 2024Guideline
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAHuman mutation · 2025Article
- A Drosophila model of mitochondrial disease phenotypic heterogeneity.Biology open · 2024Article
- NDUFV1 attenuates renal ischemia-reperfusion injury by improving mitochondrial homeostasis.Journal of cellular and molecular medicine · 2023Article
- The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.Acta neuropathologica communications · 2022Article
- Whole genome and exome sequencing identifyJournal of medical genetics · 2022Article
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Progressive cavitating leukoencephalopathy associated with a homozygousRadiology case reports · 2020Article
- mRNA-binding protein tristetraprolin is essential for cardiac response to iron deficiency by regulating mitochondrial function.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.Journal of human genetics · 2017Article
- Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese.Journal of human genetics · 2015Article
- A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.Neurogenetics · 2014Article
- Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor.Molecular and cellular biology · 2013Article
- Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.Neurogenetics · 2013Article
- Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Journal of inherited metabolic disease · 2012Review
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Authors and funding
16 authors at 7 institutions in 6 countries.
Funding
Abstract
We present clinical, neuroimaging, and molecular data on the identification of a new homozygous c.1783A>G (p.Thr595Ala) mutation in NDUFS1 in two inbred siblings with isolated complex I deficiency associated to a progressive cavitating leukoencephalopathy, a clinical and neuroradiological entity originally related to unknown defects of the mitochondrial energy metabolism. In both sibs, the muscle biopsy showed severe reduction of complex I enzyme activity, which was not obvious in fibroblasts. We also observed complex I dysfunction in a Neurospora crassa model of the disease, obtained by insertional mutagenesis, and in patient fibroblasts grown in galactose. Altogether, these results indicate that the NDUFS1 mutation is responsible for the disease and complex I deficiency. Clinical presentation of complex I defect is heterogeneous and includes an ample array of clinical phenotypes. Expanding the number of allelic variants in NDUFS1, our findings also contribute to a better understanding on the function of complex I.
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