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.38A>G Variant
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Switzerland: MDPI AG
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Language
English
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Switzerland: MDPI AG
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Contents
The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe2S2 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 sensorineural he...
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Full title
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12027322
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12027322
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms26083670
