Associated Papers
Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.
Jiang F et al.
Journal of Clinical Laboratory Analysis, 2026
41399147 (PubMed )
Supplement: JCLA-40-e70147-s006.xlsx › Sheet1
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.
Zhou Y et al.
Molecular Genetics and Metabolism Reports, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY et al.
Nature Metabolism, 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
NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature.
Kim J et al.
Frontiers in Pediatrics, 2022
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M et al.
Scientific Reports, 2019
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H et al.
Molecular Genetics and Metabolism, 2019
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T et al.
Molecular Genetics and Metabolism, 0
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