Associated Papers
Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.
Jiang F et al.
Journal of Clinical Laboratory Analysis, 2026
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Sung AY et al.
Nature Metabolism, 2024
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
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N et al.
Scientific Reports, 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M et al.
Scientific Reports, 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
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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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