کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1937500 1050717 2007 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy
چکیده انگلیسی
The ESSS protein is a recently isolated subunit of bovine heart mitochondrial complex I. We revisited the genomic sequence of NDUFB11, the human homolog mapping to chromosome Xp11.23, and identified two mRNA isoforms showing different expression profiles in human tissues. Cultured skin fibroblasts from four LHON patients showed a pattern of expression similar to normal controls. Moreover, NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian LHON families. Also, the gene was not affected in 11 children with a severe encephalopathy associated with decreased complex I activity in skeletal muscle.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 355, Issue 1, 30 March 2007, Pages 181-187
نویسندگان
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