کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8399122 1544418 2016 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوفیزیک
پیش نمایش صفحه اول مقاله
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
چکیده انگلیسی
Mutations in NFU1 were recently identified in patients with fatal encephalopathy. NFU1 is an iron-sulfur cluster protein necessary for the activity of the mitochondrial respiratory chain complexes I-II and the synthesis of lipoic acid. We report two NFU1 compound heterozygous individuals with normal complex I and lipoic acid-dependent enzymatic activities and low, but detectable, levels of lipoylated proteins. We demonstrated a leaky splicing regulation due to a splice site mutation (c.545 + 5G > A) that produces small amounts of wild type NFU1 mRNA that might result in enough protein to partially lipoylate and restore the activity of lipoic acid-dependent enzymes and the assembly and activity of complex I. These results allowed us to gain insights into the molecular basis underlying this disease and should be considered for the diagnosis of NFU1 patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mitochondrion - Volume 26, January 2016, Pages 72-80
نویسندگان
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