کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5514017 1400692 2017 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome
چکیده انگلیسی
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease. In a patient presenting with Leigh syndrome, which has hitherto not been described as a clinical feature of NDUFAF3 deficiency, we identified a novel homozygous variant and confirmed its pathogenicity in patient fibroblasts studies. Furthermore, we present an analysis of complex I assembly routes representative of each functional module and, thereby, link NDUFAF3 to a specific step in complex I assembly. Therefore, our report expands the phenotype of NDUFAF3 deficiency and further characterizes the role of NDUFAF3 in complex I biogenesis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 120, Issue 3, March 2017, Pages 243-246
نویسندگان
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