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- W2565350057 abstract "Iron_sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect. Disorders of mitochondrial import, export and translation, including sideroblastic anemia with ataxia, EVEN-PLUS syndrome and mitochondrial complex I deficiency due to nucleotide-binding protein-like protein gene defect, have also been implicated in ISC biogenesis defects. With advances in next generation sequencing technologies, more disorders related to ISC biogenesis defects are expected to be elucidated. In this article, we aim to shed the light on mitochondrial ISC biogenesis, related proteins and their function, pathophysiology, clinical phenotypes of related disorders, diagnostic approach, and future implications." @default.
- W2565350057 created "2017-01-06" @default.
- W2565350057 creator A5033693132 @default.
- W2565350057 creator A5049969741 @default.
- W2565350057 creator A5055583576 @default.
- W2565350057 creator A5084211315 @default.
- W2565350057 date "2017-01-01" @default.
- W2565350057 modified "2023-09-24" @default.
- W2565350057 title "Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease" @default.
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- W2565350057 doi "https://doi.org/10.17712/nsj.2017.1.20160542" @default.
- W2565350057 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5726836" @default.
- W2565350057 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28064324" @default.
- W2565350057 hasPublicationYear "2017" @default.
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