Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functiona...
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38AG Variant
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MDPI AG
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English
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MDPI AG
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Contents
The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe[sub.2]S[sub.2] iron–sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes. Björnstad syndrome, a milder condition, is characterized by sens...
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Full title
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38AG Variant
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TN_cdi_gale_infotracmisc_A838339622
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A838339622
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ISSN
1422-0067
DOI
10.3390/ijms26083670
